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.F345L

c.1033T>C

Surrounding Variants

1 paper

NM_024665.7

p.T344I

c.1031C>T

1 paper

NM_024665.7

p.F345L

c.1035C>G

1 paper

NM_024665.7

p.F345L

c.1035C>A

1 paper

NM_024665.7

p.I342_F345del4

c.1024_1034del12

1 paper

NM_024665.7

p.H348fs

c.1042_1043fs

1 paper

NM_024665.7

p.H348L

c.1043A>T

4 papers

NM_024665.7

p.H348R

c.1043A>G

7 papers

NM_024665.7

p.H348Q

c.1044T>G

7 papers

NM_024665.7

p.H348Q

c.1044T>A

1 paper

NM_024665.7

p.P341H

c.1022C>A

1 paper

NM_024665.7

p.P341A

c.1021C>G

1 paper

NM_024665.7

p.T349K

c.1046C>A