Varaico: Literature-Extracted Genetic Variants

Gene:GPANK1
Variant:p.T314N

GPANK1

29 papers

RefSeq Summary

This gene is located in a cluster of HLA-B-associated transcripts, which is included in the human major histocompatability complex III region. This gene encodes a protein which is thought to play a ro...

Pfam Domains

Ank_4aa 108–163UCSCAnkyrin repeats (many copies)
G-patchaa 255–299UCSCG-patch domain

Gene Aliases

HGNC Name

G-patch domain and ankyrin repeats 1

HGNC Previous Symbol

BAT4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_033177.4
p.T314N
c.941C>A
Surrounding Variants
1 paper
NM_033177.4
p.R325Q
c.974G>A
1 paper
NM_033177.4
p.R277W
c.829C>T
1 paper
NM_033177.4
p.G271*
c.811G>T
1 paper
NM_033177.4
p.G267fs
c.799_800fs
1 paper
NM_033177.4
p.G267S
c.799G>A
1 paper
NM_033177.4
p.G266E
c.797G>A
6 papers
NM_033177.4
p.G266R
c.796G>C
6 papers
NM_033177.4
p.G266R
c.796G>A
1 paper
NM_033177.4
p.S256S
c.768C>T
1 paper
NM_033177.4
p.R194H
c.581G>A
1 paper
NM_033177.4
p.P190fs
c.568_569fs
1 paper
NM_033177.4
p.S160R
c.480C>G
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