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.L272V

c.814T>G

Surrounding Variants

2 papers

NM_024665.7

p.L272*

c.815T>G

2 papers

NM_024665.7

p.L272*

c.815T>A

2 papers

NM_024665.7

p.A271P

c.811G>C

1 paper

NM_024665.7

p.F270L

c.810T>G

1 paper

NM_024665.7

p.F270L

c.810T>A

1 paper

NM_024665.7

p.F270C

c.809T>G

1 paper

NM_024665.7

p.F270S

c.809T>C

2 papers

NM_024665.7

p.W274R

c.820T>C

1 paper

NM_024665.7

p.F270L

c.808T>C

3 papers

NM_024665.7

p.W274R

c.820T>A

2 papers

NM_024665.7

p.F270fs

c.808_809fs

2 papers

NM_024665.7

p.W274*

c.821G>A