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.Q302L

c.905A>T

Surrounding Variants

1 paper

NM_001010923.3

p.Y313F

c.938A>T

1 paper

NM_001010923.3

p.P328S

c.982C>T

1 paper

NM_001010923.3

p.R330G

c.988A>G

1 paper

NM_001010923.3

p.P335S

c.1003C>T

1 paper

NM_001010923.3

p.P335H

c.1004C>A

1 paper

NM_001010923.3

p.Y338N

c.1012T>A

1 paper

NM_001010923.3

p.Y338F

c.1013A>T

1 paper

NM_001010923.3

p.N262D

c.784A>G

1 paper

NM_001010923.3

p.Y259F

c.776A>T

1 paper

NM_001010923.3

p.P346L

c.1037C>T

1 paper

NM_001010923.3

p.Y353F

c.1058A>T

1 paper

NM_001010923.3

p.D354H

c.1060G>C