Varaico: Literature-Extracted Genetic Variants

TBL1Y

50 papers

RefSeq Summary

The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory func...

Pfam Domains

LisHaa 6–32UCSCLisH

WD40aa 170–207UCSCWD domain, G-beta repeat

WD40aa 222–263UCSCWD domain, G-beta repeat

WD40aa 266–304UCSCWD domain, G-beta repeat

WD40aa 349–387UCSCWD domain, G-beta repeat

WD40aa 391–438UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

transducin beta like 1 Y-linked

HGNC Alias Symbol

TBL1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_033284.2

p.R176W

c.526C>T

Surrounding Variants

1 paper

NM_033284.2

p.F183V

c.547T>G

1 paper

NM_033284.2

p.D164N

c.490G>A

1 paper

NM_033284.2

p.E160*

c.478G>T

1 paper

NM_033284.2

p.D237insFs

c.710dupA

1 paper

NM_033284.2

p.S254P

c.760T>C

1 paper

NM_033284.2

p.A259T

c.775G>A

3 papers

NM_033284.2

p.N153Splc

c.457+1G>C

2 papers

NM_033284.2

p.G144W

c.430G>T

1 paper

NM_033284.2

p.A140V

c.419C>T

1 paper

NM_033284.2

p.R138Q

c.413G>A

1 paper

NM_033284.2

p.T125S

c.374C>G

1 paper

NM_033284.2

p.T125S

c.373A>T