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.I78T

c.233T>C

Surrounding Variants

1 paper

NM_024665.7

p.P77L

c.230C>T

1 paper

NM_024665.7

p.P77R

c.230C>G

1 paper

NM_024665.7

p.P77T

c.229C>A

1 paper

NM_024665.7

p.S80A

c.238T>G

1 paper

NM_024665.7

p.S80T

c.238T>A

1 paper

NM_024665.7

p.R76L

c.227G>T

1 paper

NM_024665.7

p.R76Q

c.227G>A

1 paper

NM_024665.7

p.S80F

c.239C>T

1 paper

NM_024665.7

p.R76*

c.226C>T

1 paper

NM_024665.7

p.R76G

c.226C>G

1 paper

NM_024665.7

p.L81L

c.241C>T

2 papers

NM_024665.7

p.D74N

c.220G>A