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.A112T

c.334G>A

Surrounding Variants

1 paper

NM_024665.7

p.A110A

c.330T>A

1 paper

NM_024665.7

p.A109delFs

c.326_327delTG

1 paper

NM_024665.7

p.A114V

c.341C>T

1 paper

NM_024665.7

p.A109V

c.326C>T

1 paper

NM_024665.7

p.A114A

c.342C>G

1 paper

NM_024665.7

p.A109delFs

c.325delC

3 papers

NM_024665.7

p.A108_A109delFs

c.324_325delCT

5 papers

NM_024665.7

p.A115T

c.343G>A

1 paper

NM_024665.7

p.A108delFs

c.323delG

1 paper

NM_024665.7

p.A115insFs

c.344dupC

4 papers

NM_024665.7

p.A116S

c.346G>T

3 papers

NM_024665.7

p.A108T

c.322G>A