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.R340G

c.1018A>G

Surrounding Variants

1 paper

NM_024665.7

p.D339Y

c.1015G>T

2 papers

NM_024665.7

p.D339N

c.1015G>A

1 paper

NM_024665.7

p.P341A

c.1021C>G

1 paper

NM_024665.7

p.P341H

c.1022C>A

2 papers

NM_024665.7

p.Q338R

c.1013A>G

2 papers

NM_024665.7

p.Q338*

c.1012C>T

1 paper

NM_024665.7

p.G337E

c.1010G>A

1 paper

NM_024665.7

p.T344I

c.1031C>T

1 paper

NM_024665.7

p.K335fs

c.1003_1004fs

1 paper

NM_024665.7

p.F345L

c.1033T>C

1 paper

NM_024665.7

p.F345L

c.1035C>G

1 paper

NM_024665.7

p.F345L

c.1035C>A