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

10 papers

NM_024665.7

p.Y446H

c.1336T>C

Surrounding Variants

10 papers

NM_024665.7

p.Y446D

c.1336T>G

2 papers

NM_024665.7

p.Y446N

c.1336T>A

1 paper

NM_024665.7

p.Y446F

c.1337A>T

56 papers

NM_024665.7

p.Y446C

c.1337A>G

12 papers

NM_024665.7

p.Y446S

c.1337A>C

2 papers

NM_024665.7

p.V445G

c.1334T>G

1 paper

NM_024665.7

p.V445A

c.1334T>C

1 paper

NM_024665.7

p.V445L

c.1333G>T

2 papers

NM_024665.7

p.V445L

c.1333G>C

6 papers

NM_024665.7

p.S447R

c.1339A>C

1 paper

NM_024665.7

p.Y446del1

c.1336_1337delGTA

4 papers

NM_024665.7

p.S447N

c.1340G>A