Varaico: Literature-Extracted Genetic Variants

Gene:TBATA
Variant:p.R204_Q209delFs

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
1 paper
NM_001318241.2
p.R204_Q209delFs
c.611_626del16
Surrounding Variants
1 paper
NM_001318241.2
p.S205_Q210delFs
c.614_629del16
2 papers
NM_001318241.2
p.A222A
c.666T>C
1 paper
NM_001318241.2
p.L224F
c.670C>T
1 paper
NM_001318241.2
p.E229K
c.685G>A
1 paper
NM_001318241.2
p.A183_G190del0
c.547_570del24
1 paper
NM_001318241.2
p.L159_T160delFs
c.475_478del4
1 paper
NM_001318241.2
p.R155W
c.463C>T
1 paper
NM_001318241.2
p.C237Y
c.710G>A
1 paper
NM_001318241.2
p.R238Q
c.713G>A
1 paper
NM_001318241.2
p.I129N
c.386T>A
1 paper
NM_001318241.2
p.G117S
c.349G>A
1 paper
NM_001318241.2
p.P108delFs
c.324delG
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