Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NUBPL

Variant:p.N198T

NUBPL

120 papers

RefSeq Summary

This gene encodes a member of the Mrp/NBP35 ATP-binding proteins family. The encoded protein is required for the assembly of the respiratory chain NADH dehydrogenase (complex I), an oligomeric enzymat...

Pfam Domains

ParAaa 65–311UCSCNUBPL iron-transfer P-loop NTPase

Gene Aliases

HGNC Name

NUBP iron-sulfur cluster assembly factor, mitochondrial

HGNC Previous Symbol

C14orf127

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

3 papers

chr14:31787859 A>C

NM_025152.3

p.N198T

c.593A>C

ParA

Exome: 0.5% (AC=7622, hom=24)Genome: 0.5% (AC=710, hom=4)9 overlapping SVs

Surrounding Variants

1 paper

chr14:31787858 A>T

NM_025152.3

p.N198Y

c.592A>T

ParA

exact variant not in gnomAD9 overlapping SVs

1 paper

chr14:31787869 A>G

NM_001201574.2

p.I18M

c.54A>G

ParA

Exome: 0.0% (AC=6, hom=0)Genome: 0.0% (AC=6, hom=0)9 overlapping SVs

7 papers

chr14:31787845 A>C

NM_025152.3

p.L193F

c.579A>C

ParA

exact variant not in gnomAD9 overlapping SVs

6 papers

chr14:31787845 A>T

NM_025152.3

p.L193F

c.579A>T

ParA

exact variant not in gnomAD9 overlapping SVs

1 paper

chr14:31787829 C>A

NM_025152.3

p.T188N

c.563C>A

ParA

exact variant not in gnomAD9 overlapping SVs

10 papers

chr14:31787811 T>C

NM_025152.3

p.V182A

c.545T>C

ParA

Exome: 0.3% (AC=4068, hom=10)Genome: 0.3% (AC=382, hom=0)9 overlapping SVs

1 paper

chr14:31787783 G>C

NM_025152.3

p.D173H

c.517G>C

ParA

exact variant not in gnomAD9 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."