Varaico: Literature-Extracted Genetic Variants

Gene:ITM2A
Variant:p.K46Q

ITM2A

40 papers

RefSeq Summary

This gene encodes a type II membrane protein that belongs to the ITM2 family. Studies in mouse suggest that it may be involved in osteo- and chondrogenic differentiation. Alternatively spliced transcr...

Pfam Domains

BRICHOSaa 135–226UCSCBRICHOS domain

Gene Aliases

HGNC Name

integral membrane protein 2A

HGNC Alias Symbols

BRICD2A; E25A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004867.5
p.K46Q
c.136A>C
Surrounding Variants
2 papers
NM_004867.5
p.A72V
c.215C>T
1 paper
NM_004867.5
p.Y75C
c.224A>G
1 paper
NM_004867.5
p.S100A
c.298T>G
1 paper
NM_004867.5
p.S100P
c.298T>C
1 paper
NM_004867.5
p.E105A
c.314A>C
1 paper
NM_004867.5
p.P106L
c.317C>T
1 paper
NM_004867.5
p.F108V
c.322T>G
1 paper
NM_004867.5
p.V111L
c.331G>T
1 paper
NM_004867.5
p.V111L
c.331G>C
1 paper
NM_004867.5
p.R118C
c.352C>T
1 paper
NM_004867.5
p.P129H
c.386C>A
1 paper
NM_004867.5
p.D154Y
c.460G>T
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