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.V466_Q472del7

c.1396_1415del21

Surrounding Variants

1 paper

NM_024665.7

p.Q472_T473Splc

c.1416+4T>C

1 paper

NM_024665.7

p.N470T

c.1409A>C

1 paper

NM_024665.7

p.W469G

c.1405T>G

1 paper

NM_024665.7

p.H467H

c.1401C>T

1 paper

NM_024665.7

p.H467Y

c.1399C>T

2 papers

NM_024665.7

p.H467D

c.1399C>G

1 paper

NM_024665.7

p.Q472_T473Splc

c.1416+25C>G

2 papers

NM_024665.7

p.V466G

c.1397T>G

1 paper

NM_024665.7

p.K464N

c.1392A>T

1 paper

NM_024665.7

p.K464N

c.1392A>C

1 paper

NM_024665.7

p.K464I

c.1391A>T

5 papers

NM_024665.7

p.D463V

c.1388A>T