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.E393*

c.1177G>T

Surrounding Variants

4 papers

NM_024665.7

p.E393K

c.1177G>A

1 paper

NM_024665.7

p.I394F

c.1180A>T

2 papers

NM_024665.7

p.I394M

c.1182T>G

4 papers

NM_024665.7

p.Y395H

c.1183T>C

1 paper

NM_024665.7

p.N391D

c.1171A>G

1 paper

NM_024665.7

p.Y395F

c.1184A>T

15 papers

NM_024665.7

p.Y395C

c.1184A>G

2 papers

NM_024665.7

p.H390R

c.1169A>G

1 paper

NM_024665.7

p.H390Y

c.1168C>T

1 paper

NM_024665.7

p.A389G

c.1166C>G

6 papers

NM_024665.7

p.I397fs

c.1189_1190fs

3 papers

NM_024665.7

p.T396delFs

c.1188delA