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.P310fs

c.928_929fs

Surrounding Variants

2 papers

NM_024665.7

p.P310L

c.929C>T

1 paper

NM_024665.7

p.A309V

c.926C>T

2 papers

NM_024665.7

p.A309Splc

c.926-1G>T

5 papers

NM_024665.7

p.A311P

c.931G>C

1 paper

NM_024665.7

p.A309Splc

c.926-1G>C

1 paper

NM_024665.7

p.A311T

c.931G>A

1 paper

NM_024665.7

p.P310del1

c.928_930delTGG

2 papers

NM_024665.7

p.L312V

c.934T>G

1 paper

NM_024665.7

p.L312L

c.934T>C

1 paper

NM_024665.7

p.L312M

c.934T>A

1 paper

NM_024665.7

p.L312S

c.935T>C

2 papers

NM_024665.7

p.D313N

c.937G>A