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.Y456S

c.1367A>C

Surrounding Variants

1 paper

NM_024665.7

p.Y456F

c.1367A>T

1 paper

NM_024665.7

p.Y456D

c.1366T>G

1 paper

NM_024665.7

p.R455R

c.1365G>A

2 papers

NM_024665.7

p.L457R

c.1370T>G

1 paper

NM_024665.7

p.R455K

c.1364G>A

1 paper

NM_024665.7

p.G454A

c.1361G>C

1 paper

NM_024665.7

p.A458insFs

c.1373_1374ins10

1 paper

NM_024665.7

p.S459fs

c.1375_1376fs

2 papers

NM_024665.7

p.S459R

c.1375A>C

1 paper

NM_024665.7

p.S459I

c.1376G>T

2 papers

NM_024665.7

p.S459N

c.1376G>A

1 paper

NM_024665.7

p.D453G

c.1358A>G