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.L258F

c.772C>T

Surrounding Variants

1 paper

NM_024665.7

p.G256C

c.766G>T

1 paper

NM_024665.7

p.S260N

c.779G>A

1 paper

NM_024665.7

p.L262L

c.784T>C

1 paper

NM_024665.7

p.L262S

c.785T>C

1 paper

NM_024665.7

p.G263W

c.787G>T

1 paper

NM_024665.7

p.G263R

c.787G>C

1 paper

NM_024665.7

p.G263R

c.787G>A

1 paper

NM_024665.7

p.H265D

c.793C>G

1 paper

NM_024665.7

p.H265N

c.793C>A

1 paper

NM_024665.7

p.H265R

c.794A>G

1 paper

NM_024665.7

p.H265P

c.794A>C

1 paper

NM_024665.7

p.H265delFs

c.794delT