Varaico: Literature-Extracted Genetic Variants

THEMIS

62 papers

RefSeq Summary

This gene encodes a protein that plays a regulatory role in both positive and negative T-cell selection during late thymocyte development. The protein functions through T-cell antigen receptor signali...

Pfam Domains

CABITaa 17–265UCSCCell-cycle sustaining, positive selection,

CABITaa 281–530UCSCCell-cycle sustaining, positive selection,

Gene Aliases

HGNC Name

thymocyte selection associated

HGNC Previous Symbols

C6orf207; C6orf190; TSEPA

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001010923.3

p.S420A

c.1258T>G

Surrounding Variants

1 paper

NM_001010923.3

p.K419M

c.1256A>T

1 paper

NM_001010923.3

p.Y421F

c.1262A>T

2 papers

NM_001010923.3

p.A424T

c.1270G>A

1 paper

NM_001010923.3

p.L411V

c.1231C>G

1 paper

NM_001010923.3

p.Y429F

c.1286A>T

1 paper

NM_001010923.3

p.N409S

c.1226A>G

1 paper

NM_001010923.3

p.K406delFs

c.1218delT

1 paper

NM_001010923.3

p.K441E

c.1321A>G

1 paper

NM_001010923.3

p.Y444D

c.1330T>G

1 paper

NM_001010923.3

p.Y444F

c.1331A>T

1 paper

NM_001010923.3

p.C450Y

c.1349G>A

1 paper

NM_001010923.3

p.F389S

c.1166T>C