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.K440N

c.1320A>C

Surrounding Variants

1 paper

NM_024665.7

p.K440N

c.1320A>T

1 paper

NM_024665.7

p.K440R

c.1319A>G

1 paper

NM_024665.7

p.H441L

c.1322A>T

10 papers

NM_024665.7

p.H441R

c.1322A>G

1 paper

NM_024665.7

p.Q442*

c.1324C>T

1 paper

NM_024665.7

p.Q442K

c.1324C>A

1 paper

NM_024665.7

p.T439A

c.1315A>G

1 paper

NM_024665.7

p.H441del1

c.1321_1322delGTG

1 paper

NM_024665.7

p.L438*

c.1313T>A

1 paper

NM_024665.7

p.E443K

c.1327G>A

6 papers

NM_024665.7

p.P444R

c.1331C>G

1 paper

NM_024665.7

p.V445L

c.1333G>T