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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GMPPB

Variant:p.P32L

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

Selected Variant

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

Surrounding Variants

5 papers

chr3:49723633 G>A

NM_021971.4

p.P32S

c.94C>T

NTP_transferase

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

3 papers

chr3:49723636 T>C

NM_021971.4

p.K31E

c.91A>G

NTP_transferase

Exome: 0.0% (AC=5, hom=0)Genome: 0.0% (AC=1, hom=0)56 overlapping SVs

1 paper

chr3:49723638 T>C

NM_021971.4

p.N30S

c.89A>G

NTP_transferase

Exome: 0.0% (AC=7, hom=0)Genome: 0.0% (AC=2, hom=0)56 overlapping SVs

4 papers

chr3:49723640 G>T

NM_021971.4

p.C29*

c.87C>A

NTP_transferase

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=1, hom=0)56 overlapping SVs

1 paper

chr3:49723618 G>A

NM_021971.4

p.Q37*

c.109C>T

NTP_transferase

Exome: 0.0% (AC=3, hom=0)Genome: n/a56 overlapping SVs

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

2 papers

chr3:49723648 C>T

NM_021971.4

p.D27N

c.79G>A

NTP_transferase

exact variant not in gnomAD56 overlapping SVs

1 paper

chr3:49723650 A>G

NM_021971.4

p.V26A

c.77T>C

NTP_transferase

exact variant not in gnomAD56 overlapping SVs

1 paper

chr3:49723659 TTCGGGGTGC>T

NM_021971.4

p.S20_P22del3

c.58_65del9

NTP_transferase

exact variant not in gnomAD56 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

1 paper

chr3:49723671 A>G

NM_021971.4

p.L19P

c.56T>C

NTP_transferase

Exome: 0.0% (AC=2, hom=0)Genome: n/a56 overlapping SVs

1 paper

chr3:49723707 A>C

NM_021971.4

p.V7G

c.20T>G

NTP_transferase

exact variant not in gnomAD56 overlapping SVs

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