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.M88R

c.263T>G

Surrounding Variants

1 paper

NM_024665.7

p.P89S

c.265C>T

1 paper

NM_024665.7

p.D85_V87delFs

c.253_259del7

1 paper

NM_024665.7

p.P89insFs

c.265dupC

1 paper

NM_024665.7

p.A86A

c.258C>T

1 paper

NM_024665.7

p.A86V

c.257C>T

1 paper

NM_024665.7

p.A86D

c.257C>A

1 paper

NM_024665.7

p.D85_A86del1

c.254_256delCAT

1 paper

NM_024665.7

p.A86P

c.256G>C

1 paper

NM_024665.7

p.A86T

c.256G>A

1 paper

NM_024665.7

p.D85delFs

c.254_255delAT

2 papers

NM_024665.7

p.D85E

c.255T>G

2 papers

NM_024665.7

p.D85E

c.255T>A