Varaico: Literature-Extracted Genetic Variants

Gene:ITM2A
Variant:p.R230T

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
2 papers
NM_004867.5
p.R230T
c.689G>C
Surrounding Variants
1 paper
NM_004867.5
p.Q217R
c.650A>G
1 paper
NM_004867.5
p.S209N
c.626G>A
1 paper
NM_004867.5
p.V200F
c.598G>T
1 paper
NM_004867.5
p.D198Y
c.592G>T
1 paper
NM_004867.5
p.R196G
c.586C>G
1 paper
NM_004867.5
p.Y193N
c.577T>A
1 paper
NM_004867.5
p.E263K
c.787G>A
1 paper
NM_004867.5
p.A184V
c.551C>T
1 paper
NM_004867.5
p.F180L
c.540T>G
1 paper
NM_004867.5
p.F180L
c.540T>A
1 paper
NM_004867.5
p.F180L
c.538T>C
1 paper
NM_004867.5
p.P173Q
c.518C>A
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