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.G267G

c.801C>A

Surrounding Variants

3 papers

NM_024665.7

p.G267insFs

c.800dupG

1 paper

NM_024665.7

p.G267delFs

c.800delC

5 papers

NM_024665.7

p.G267V

c.800G>T

4 papers

NM_024665.7

p.G267C

c.799G>T

1 paper

NM_024665.7

p.G267fs

c.799_800fs

1 paper

NM_024665.7

p.K266_G267insFs

c.798_799insG

1 paper

NM_024665.7

p.K266R

c.797A>G

2 papers

NM_024665.7

p.I269fs

c.805_806fs

1 paper

NM_024665.7

p.I269T

c.806T>C

1 paper

NM_024665.7

p.H265delFs

c.794delT

1 paper

NM_024665.7

p.F270L

c.808T>C

2 papers

NM_024665.7

p.F270fs

c.808_809fs