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

27 papers

NM_024665.7

p.L282P

c.845T>C

Surrounding Variants

1 paper

NM_024665.7

p.S283R

c.847A>C

2 papers

NM_024665.7

p.S283N

c.848G>A

1 paper

NM_024665.7

p.S283R

c.849T>G

1 paper

NM_024665.7

p.S283R

c.849T>A

1 paper

NM_024665.7

p.N279_F280delFs

c.837_838delAA

2 papers

NM_024665.7

p.A284G

c.851C>G

1 paper

NM_024665.7

p.N279K

c.837T>G

1 paper

NM_024665.7

p.N279K

c.837T>A

4 papers

NM_024665.7

p.G285E

c.854G>A

1 paper

NM_024665.7

p.N279T

c.836A>C

1 paper

NM_024665.7

p.G285G

c.855A>G

1 paper

NM_024665.7

p.V286Fs

c.856delinsAGFs