Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GMPPB

GMPPB

181 papers

RefSeq Summary

This gene is thought to encode a GDP-mannose pyrophosphorylase. The encoded protein catalyzes the conversion of mannose-1-phosphate and GTP to GDP-mannose, a reaction involved in the production of N-l...

Pfam Domains

NTP_transferaseaa 2–235UCSCNucleotidyl transferase

GMPPB_Caa 250–359UCSCGMPPB C-terminal domain

Gene Aliases

HGNC Name

GDP-mannose pyrophosphorylase B

HGNC Alias Symbol

KIAA1851

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 164 variants

37 papers

chr3:49723648 C>G

NM_021971.4

p.D27H

c.79G>C

NTP_transferase

Exome: 0.1% (AC=1427, hom=1)Genome: 0.1% (AC=79, hom=0)56 overlapping SVs

31 papers

chr3:49722056 C>T

NM_021971.4

p.R287Q

c.860G>A

GMPPB_C

Exome: 0.0% (AC=260, hom=0)Genome: 0.0% (AC=29, hom=0)57 overlapping SVs

21 papers

chr3:49723632 G>A

NM_021971.4

p.P32L

c.95C>T

NTP_transferase

Exome: 0.0% (AC=109, hom=0)Genome: 0.0% (AC=1, hom=0)56 overlapping SVs

21 papers

chr3:49722057 G>A

NM_021971.4

p.R287W

c.859C>T

GMPPB_C

Exome: 0.0% (AC=173, hom=0)Genome: 0.0% (AC=10, hom=0)57 overlapping SVs

18 papers

chr3:49721835 C>T

NM_021971.4

p.D334N

c.1000G>A

GMPPB_C

Exome: 0.0% (AC=107, hom=0)Genome: 0.0% (AC=5, hom=0)57 overlapping SVs

14 papers

chr3:49722699 G>A

NM_021971.4

p.T153I

c.458C>T

NTP_transferase

Exome: 0.0% (AC=9, hom=0)Genome: n/a56 overlapping SVs

13 papers

chr3:49722604 G>A

NM_021971.4

p.R185C

c.553C>T

NTP_transferase

Exome: 0.0% (AC=15, hom=0)Genome: 0.0% (AC=2, hom=0)56 overlapping SVs

13 papers

chr3:49721847 C>T

NM_021971.4

p.V330I

c.988G>A

GMPPB_C

Exome: 0.0% (AC=156, hom=0)Genome: 0.0% (AC=7, hom=0)57 overlapping SVs

12 papers

chr3:49722239 C>T

NM_021971.4

p.V254M

c.760G>A

GMPPB_C

Exome: 0.0% (AC=25, hom=0)Genome: 0.0% (AC=2, hom=0)56 overlapping SVs

11 papers

chr3:49722343 A>G

NM_021971.4

p.I219T

c.656T>C

NTP_transferase

Exome: 0.0% (AC=134, hom=0)Genome: 0.0% (AC=7, hom=0)56 overlapping SVs

10 papers

chr3:49723663 G>A

NM_021971.4

p.P22S

c.64C>T

NTP_transferase

Exome: 0.0% (AC=1, hom=0)Genome: n/a56 overlapping SVs

10 papers

chr3:49723066 G>A

NM_021971.4

p.P103L

c.308C>T

NTP_transferase

exact variant not in gnomAD57 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."