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.D369V

c.1106A>T

Surrounding Variants

1 paper

NM_024665.7

p.D369G

c.1106A>G

1 paper

NM_024665.7

p.D369A

c.1106A>C

6 papers

NM_024665.7

p.D369E

c.1107C>G

6 papers

NM_024665.7

p.D369E

c.1107C>A

14 papers

NM_024665.7

p.D370Y

c.1108G>T

20 papers

NM_024665.7

p.D370N

c.1108G>A

2 papers

NM_024665.7

p.S368F

c.1103C>T

2 papers

NM_024665.7

p.D370G

c.1109A>G

1 paper

NM_024665.7

p.D370A

c.1109A>C

1 paper

NM_024665.7

p.C367*

c.1101T>A

1 paper

NM_024665.7

p.C367F

c.1100G>T

2 papers

NM_024665.7

p.C367Y

c.1100G>A