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.F322L

c.966T>A

Surrounding Variants

1 paper

NM_024665.7

p.F322L

c.966T>G

1 paper

NM_024665.7

p.F322L

c.964T>C

1 paper

NM_024665.7

p.S324A

c.970T>G

1 paper

NM_024665.7

p.A323del1

c.967_969delAGC

1 paper

NM_024665.7

p.T321S

c.962C>G

2 papers

NM_024665.7

p.S324F

c.971C>T

1 paper

NM_024665.7

p.T321fs

c.961_962fs

2 papers

NM_024665.7

p.T321A

c.961A>G

1 paper

NM_024665.7

p.T321insFs

c.961_962ins10

1 paper

NM_024665.7

p.C325R

c.973T>C

2 papers

NM_024665.7

p.N320S

c.959A>G

1 paper

NM_024665.7

p.N320T

c.959A>C