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

1–12 of 857 variants

56 papers

NM_024665.7

p.Y446C

c.1337A>G

27 papers

NM_024665.7

p.L282P

c.845T>C

20 papers

NM_024665.7

p.D370N

c.1108G>A

19 papers

NM_024665.7

p.G70D

c.209G>A

15 papers

NM_024665.7

p.Y395C

c.1184A>G

14 papers

NM_024665.7

p.D370Y

c.1108G>T

13 papers

NM_024665.7

p.C325Y

c.974G>A

12 papers

NM_024665.7

p.Y446S

c.1337A>C

10 papers

NM_024665.7

p.H441R

c.1322A>G

10 papers

NM_024665.7

p.Y446D

c.1336T>G

10 papers

NM_024665.7

p.Y446H

c.1336T>C

9 papers

NM_024665.7

p.D328G

c.983A>G