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.R544W

c.1630C>T

Surrounding Variants

1 paper

NM_001010923.3

p.M542V

c.1624A>G

1 paper

NM_001010923.3

p.Y546F

c.1637A>T

1 paper

NM_001010923.3

p.Y541F

c.1622A>T

1 paper

NM_001010923.3

p.Y540F

c.1619A>T

1 paper

NM_001010923.3

p.Q539fs

c.1615_1616fs

1 paper

NM_001010923.3

p.Q539insFs

c.1615_1616ins8

1 paper

NM_001010923.3

p.R521K

c.1562G>A

1 paper

NM_001010923.3

p.T512P

c.1534A>C

1 paper

NM_001010923.3

p.D580Y

c.1738G>T

1 paper

NM_001010923.3

p.L581L

c.1741C>T

1 paper

NM_001010923.3

p.P582S

c.1744C>T

1 paper

NM_001010923.3

p.P505S

c.1513C>T