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.T512P

c.1534A>C

Surrounding Variants

1 paper

NM_001010923.3

p.P505S

c.1513C>T

1 paper

NM_001010923.3

p.E503K

c.1507G>A

1 paper

NM_001010923.3

p.R521K

c.1562G>A

1 paper

NM_001010923.3

p.T499M

c.1496C>T

1 paper

NM_001010923.3

p.P498S

c.1492C>T

1 paper

NM_001010923.3

p.S493N

c.1478G>A

1 paper

NM_001010923.3

p.I492V

c.1474A>G

1 paper

NM_001010923.3

p.Y489*

c.1467C>G

1 paper

NM_001010923.3

p.Y489*

c.1467C>A

1 paper

NM_001010923.3

p.Y489F

c.1466A>T

1 paper

NM_001010923.3

p.Q539insFs

c.1615_1616ins8

1 paper

NM_001010923.3

p.Q539fs

c.1615_1616fs