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.V384I

c.1150G>A

Surrounding Variants

1 paper

NM_024665.7

p.H385Y

c.1153C>T

1 paper

NM_024665.7

p.H385P

c.1154A>C

1 paper

NM_024665.7

p.N382S

c.1145A>G

1 paper

NM_024665.7

p.D386Y

c.1156G>T

1 paper

NM_024665.7

p.D386H

c.1156G>C

1 paper

NM_024665.7

p.Q380*

c.1138C>T

1 paper

NM_024665.7

p.Q388fs

c.1162_1163fs

1 paper

NM_024665.7

p.K379E

c.1135A>G

2 papers

NM_024665.7

p.M378I

c.1134G>T

1 paper

NM_024665.7

p.M378I

c.1134G>C

1 paper

NM_024665.7

p.M378I

c.1134G>A

1 paper

NM_024665.7

p.A389G

c.1166C>G