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.H332R

c.995A>G

Surrounding Variants

1 paper

NM_024665.7

p.H332N

c.994C>A

1 paper

NM_024665.7

p.V333A

c.998T>C

3 papers

NM_024665.7

p.C334R

c.1000T>C

1 paper

NM_024665.7

p.M329I

c.987G>T

1 paper

NM_024665.7

p.M329I

c.987G>C

1 paper

NM_024665.7

p.M329I

c.987G>A

1 paper

NM_024665.7

p.K335fs

c.1003_1004fs

2 papers

NM_024665.7

p.D328E

c.984T>G

2 papers

NM_024665.7

p.D328E

c.984T>A

1 paper

NM_024665.7

p.D328V

c.983A>T

9 papers

NM_024665.7

p.D328G

c.983A>G

1 paper

NM_024665.7

p.D328H

c.982G>C