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.S326S

c.978T>C

Surrounding Variants

4 papers

NM_024665.7

p.S326R

c.978T>G

4 papers

NM_024665.7

p.S326R

c.978T>A

1 paper

NM_024665.7

p.S326I

c.977G>T

3 papers

NM_024665.7

p.S326T

c.977G>C

3 papers

NM_024665.7

p.S326N

c.977G>A

1 paper

NM_024665.7

p.T327A

c.979A>G

1 paper

NM_024665.7

p.T327K

c.980C>A

2 papers

NM_024665.7

p.S326_T327del1

c.977_979delTAC

1 paper

NM_024665.7

p.S326C

c.976A>T

5 papers

NM_024665.7

p.S326R

c.976A>C

1 paper

NM_024665.7

p.C325del1

c.973_974delACA

3 papers

NM_024665.7

p.S324_C325del2

c.970_974del6