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.A124P

c.370G>C

Surrounding Variants

2 papers

NM_024665.7

p.A124S

c.370G>T

1 paper

NM_024665.7

p.A124V

c.371C>T

1 paper

NM_024665.7

p.S123F

c.368C>T

2 papers

NM_024665.7

p.K125E

c.373A>G

1 paper

NM_024665.7

p.K125R

c.374A>G

2 papers

NM_024665.7

p.N126fs

c.376_377fs

4 papers

NM_024665.7

p.N126fs

c.376_377fs

3 papers

NM_024665.7

p.N126delFs

c.377delT

1 paper

NM_024665.7

p.G127A

c.380G>C

2 papers

NM_024665.7

p.G127E

c.380G>A

1 paper

NM_024665.7

p.Q120*

c.358C>T

1 paper

NM_024665.7

p.Q120fs

c.358_359fs