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.Y99*

c.297T>A

Surrounding Variants

1 paper

NM_024665.7

p.R100*

c.298A>T

1 paper

NM_024665.7

p.Y99insFs

c.297dupT

1 paper

NM_024665.7

p.Y99_R100insFs

c.297_298insTT

1 paper

NM_024665.7

p.Y99H

c.295T>C

1 paper

NM_024665.7

p.R100I

c.299G>T

1 paper

NM_024665.7

p.D101Y

c.301G>T

1 paper

NM_024665.7

p.A98V

c.293C>T

1 paper

NM_024665.7

p.A98S

c.292G>T

1 paper

NM_024665.7

p.Q97delFs

c.290_291delTT

1 paper

NM_024665.7

p.Q96_Q97del1

c.288_290delTGT

1 paper

NM_024665.7

p.Q97Q

c.291A>G

1 paper

NM_024665.7

p.Q97R

c.290A>G