Varaico: Literature-Extracted Genetic Variants

Gene:PTCRA
Variant:p.R216W

PTCRA

70 papers

RefSeq Summary

The protein encoded by this gene is a single-pass type I membrane protein that is found in immmature but not mature T-cells. Along with TCRB and CD3 complex, the encoded protein forms the pre-T-cell r...

Pfam Domains

PTCRAaa 20–146UCSCPre-T-cell antigen receptor

Gene Aliases

HGNC Name

pre T cell antigen receptor alpha

HGNC Alias Symbols

PTA; PT-ALPHA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_138296.3
p.R216W
c.646C>T
Surrounding Variants
1 paper
NM_138296.3
p.G221_P225delFs
c.662_675del14
1 paper
NM_138296.3
p.G221fs
c.661_662fs
3 papers
NM_138296.3
p.R205*
c.613C>T
1 paper
NM_138296.3
p.A199T
c.595G>A
1 paper
NM_138296.3
p.W234*
c.701G>A
1 paper
NM_138296.3
p.R195*
c.583C>T
1 paper
NM_138296.3
p.R195del1
c.583_584delCGA
1 paper
NM_138296.3
p.G192G
c.576C>A
1 paper
NM_138296.3
p.S242N
c.725G>A
1 paper
NM_138296.3
p.P244S
c.730C>T
1 paper
NM_138296.3
p.Q249fs
c.745_746fs
1 paper
NM_138296.3
p.A176T
c.526G>A
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