Varaico: Literature-Extracted Genetic Variants

Gene:FXYD5
Variant:p.T106M

FXYD5

24 papers

RefSeq Summary

This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conser...

Pfam Domains

ATP1G1_PLM_MAT8aa 130–167UCSCATP1G1/PLM/MAT8 family
ATP1G1_PLM_MAT8aa 130–177UCSCATP1G1/PLM/MAT8 family

Gene Aliases

HGNC Name

FXYD domain containing ion transport regulator 5

HGNC Alias Symbol

OIT2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014164.6
p.T106M
c.317C>T
Surrounding Variants
1 paper
NM_014164.6
p.T105M
c.314C>T
1 paper
NM_014164.6
p.Q118R
c.353A>G
1 paper
NM_014164.6
p.P126delFs
c.377delC
1 paper
NM_014164.6
p.R145W
c.433C>T
1 paper
NM_014164.6
p.A150G
c.449C>G
1 paper
NM_014164.6
p.I160M
c.480C>G
1 paper
NM_014164.6
p.P89P
c.267A>G
1 paper
NM_014164.6
p.D88G
c.263A>G
1 paper
NM_014164.6
p.G80R
c.238G>A
1 paper
NM_014164.6
p.G80R
c.238G>C
1 paper
NM_014164.6
p.T73S
c.217A>T
2 papers
NM_014164.6
p.R176H
c.527G>A
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