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.W316R

c.946T>A

Surrounding Variants

1 paper

NM_024665.7

p.W316G

c.946T>G

1 paper

NM_024665.7

p.W316R

c.946T>C

1 paper

NM_024665.7

p.D315del1

c.943_944delATC

2 papers

NM_024665.7

p.D315E

c.945T>A

1 paper

NM_024665.7

p.W316L

c.947G>T

1 paper

NM_024665.7

p.D315G

c.944A>G

1 paper

NM_024665.7

p.D315A

c.944A>C

1 paper

NM_024665.7

p.V314del1

c.940_941delAAC

2 papers

NM_024665.7

p.D315N

c.943G>A

1 paper

NM_024665.7

p.Q317*

c.949C>T

1 paper

NM_024665.7

p.Q317K

c.949C>A

1 paper

NM_024665.7

p.Q317H

c.951G>T