Varaico: Literature-Extracted Genetic Variants

Gene:TBATA
Variant:p.R53C

TBATA

64 papers

RefSeq Summary

This gene encodes a protein that regulates thymic epithelial cell proliferation and thymus size. It has been identified as a ligand for the class I human leukocyte antigen (HLA-I) in thymus. Studies o...

Pfam Domains

SPATIALaa 77–271UCSCSPATIAL

Gene Aliases

HGNC Name

thymus, brain and testes associated

HGNC Previous Symbol

C10orf27

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001318241.2
p.R53C
c.157C>T
Surrounding Variants
1 paper
NM_001318241.2
p.R54W
c.160C>T
1 paper
NM_001318241.2
p.R54Q
c.161G>A
1 paper
NM_001318241.2
p.R51Q
c.152G>A
1 paper
NM_001318241.2
p.P59delFs
c.176delG
1 paper
NM_001318241.2
p.K60fs
c.178_179fs
1 paper
NM_001318241.2
p.K60delFs
c.179delT
1 paper
NM_001318241.2
p.P44S
c.130C>T
1 paper
NM_001318241.2
p.G36R
c.106G>C
1 paper
NM_001318241.2
p.G36R
c.106G>A
1 paper
NM_001318241.2
p.S73G
c.217A>G
1 paper
NM_001318241.2
p.R33G
c.97A>G
1 paper
NM_001318241.2
p.R27H
c.80G>A
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