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.D101_K102delFs

c.303_304delTA

Surrounding Variants

4 papers

NM_024665.7

p.K102R

c.305A>G

1 paper

NM_024665.7

p.L103R

c.308T>G

2 papers

NM_024665.7

p.L103H

c.308T>A

1 paper

NM_024665.7

p.D101Y

c.301G>T

1 paper

NM_024665.7

p.A104T

c.310G>A

1 paper

NM_024665.7

p.R100I

c.299G>T

1 paper

NM_024665.7

p.A104V

c.311C>T

1 paper

NM_024665.7

p.A104G

c.311C>G

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.Y99*

c.297T>A