Varaico: Literature-Extracted Genetic Variants

Gene:TBATA
Variant:p.S321R

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.S321R
c.961A>C
Surrounding Variants
1 paper
NM_001318241.2
p.S321R
c.963C>G
1 paper
NM_001318241.2
p.S321R
c.963C>A
1 paper
NM_001318241.2
p.P310L
c.929C>T
1 paper
NM_001318241.2
p.Q334Q
c.1002G>A
1 paper
NM_001318241.2
p.M335I
c.1005G>T
1 paper
NM_001318241.2
p.M335I
c.1005G>C
1 paper
NM_001318241.2
p.M335I
c.1005G>A
1 paper
NM_001318241.2
p.S346L
c.1037C>T
1 paper
NM_001318241.2
p.P348L
c.1043C>T
1 paper
NM_001318241.2
p.S352C
c.1054A>T
1 paper
NM_001318241.2
p.Q299_C306insFs
c.897_918dup22
1 paper
NM_001318241.2
p.E303K
c.907G>A
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