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.L364S

c.1091T>C

Surrounding Variants

1 paper

NM_024665.7

p.L364insFs

c.1091dupT

1 paper

NM_024665.7

p.L364fs

c.1090_1091fs

1 paper

NM_024665.7

p.L364_A365del1

c.1091_1093delCCA

1 paper

NM_024665.7

p.L363V

c.1087C>G

1 paper

NM_024665.7

p.S366P

c.1096T>C

5 papers

NM_024665.7

p.S366F

c.1097C>T

1 paper

NM_024665.7

p.N362T

c.1085A>C

1 paper

NM_024665.7

p.C367F

c.1100G>T

2 papers

NM_024665.7

p.C367Y

c.1100G>A

1 paper

NM_024665.7

p.C367*

c.1101T>A

1 paper

NM_024665.7

p.T360T

c.1080T>G

2 papers

NM_024665.7

p.S368F

c.1103C>T