Varaico: Literature-Extracted Genetic Variants

Gene:CD2BP2
Variant:p.R129W

CD2BP2

44 papers

RefSeq Summary

This gene encodes a bi-functional protein. In the cytoplasm, the encoded protein binds the cytoplasmic tail of human surface antigen CD2 via its C-terminal GYF domain, and regulate CD2-triggered T lym...

Pfam Domains

GYFaa 283–332UCSCGYF domain

Gene Aliases

HGNC Name

CD2 cytoplasmic tail binding protein 2

HGNC Alias Symbols

LIN1; Snu40; PPP1R59; U5-52K

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006110.3
p.R129W
c.385C>T
Surrounding Variants
1 paper
NM_006110.3
p.D140fs
c.418_419fs
1 paper
NM_006110.3
p.Q149H
c.447G>T
1 paper
NM_006110.3
p.Q149H
c.447G>C
1 paper
NM_006110.3
p.M152V
c.454A>G
1 paper
NM_006110.3
p.D124_W125delFs
c.371_374del4
1 paper
NM_006110.3
p.G173R
c.517G>C
1 paper
NM_006110.3
p.G173R
c.517G>A
1 paper
NM_006110.3
p.Q114H
c.342G>T
1 paper
NM_006110.3
p.Q114H
c.342G>C
1 paper
NM_006110.3
p.N106S
c.317A>G
3 papers
NM_006110.3
p.T88S
c.262A>T
1 paper
NM_006110.3
p.R86Q
c.257G>A
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