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.E68_D69Splc

c.205-1G>C

Surrounding Variants

1 paper

NM_024665.7

p.D69H

c.205G>C

1 paper

NM_024665.7

p.E68_D69Splc

c.205-2A>T

1 paper

NM_024665.7

p.D69A

c.206A>C

19 papers

NM_024665.7

p.G70D

c.209G>A

1 paper

NM_024665.7

p.E68_D69Splc

c.205-7A>G

1 paper

NM_024665.7

p.T71I

c.212C>T

1 paper

NM_024665.7

p.L72insFs

c.215_216insAA

1 paper

NM_024665.7

p.L72fs

c.214_215fs

1 paper

NM_024665.7

p.F73L

c.219T>A

2 papers

NM_024665.7

p.D74N

c.220G>A

1 paper

NM_024665.7

p.R76*

c.226C>T

1 paper

NM_024665.7

p.R76G

c.226C>G