Varaico: Literature-Extracted Genetic Variants

TBL1XR1

404 papers

RefSeq Summary

This gene is a member of the WD40 repeat-containing gene family and shares sequence similarity with transducin (beta)-like 1X-linked (TBL1X). The protein encoded by this gene is thought to be a compon...

Pfam Domains

LisHaa 6–32UCSCLisH

WD40aa 160–197UCSCWD domain, G-beta repeat

WD40aa 211–248UCSCWD domain, G-beta repeat

WD40aa 218–253UCSCWD domain, G-beta repeat

WD40aa 256–294UCSCWD domain, G-beta repeat

WD40aa 339–377UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

TBL1X/Y related 1

HGNC Alias Symbols

IRA1; FLJ12894; TBLR1; C21; DC42

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_024665.7

p.A115insFs

c.344dupC

Surrounding Variants

4 papers

NM_024665.7

p.A116S

c.346G>T

1 paper

NM_024665.7

p.A114_A115delFs

c.342_345del4

5 papers

NM_024665.7

p.A115T

c.343G>A

1 paper

NM_024665.7

p.A116V

c.347C>T

1 paper

NM_024665.7

p.A116D

c.347C>A

1 paper

NM_024665.7

p.A114A

c.342C>G

1 paper

NM_024665.7

p.A114V

c.341C>T

2 papers

NM_024665.7

p.A111_A117del0

c.333_350del18

1 paper

NM_024665.7

p.A118V

c.353C>T

2 papers

NM_024665.7

p.S119fs

c.355_356fs

2 papers

NM_024665.7

p.A118delFs

c.354delG

1 paper

NM_024665.7

p.S119T

c.356G>C