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

1–12 of 31 variants

3 papers

NM_033284.2

p.N153Splc

c.457+1G>C

2 papers

NM_033284.2

p.D69H

c.205G>C

2 papers

NM_033284.2

p.G144W

c.430G>T

2 papers

NM_033284.2

p.R176W

c.526C>T

1 paper

NM_033284.2

p.S24L

c.71C>T

1 paper

NM_033284.2

p.P46L

c.137C>T

1 paper

NM_033284.2

p.K68_D69Splc

c.204+1G>C

1 paper

NM_033284.2

p.D69V

c.206A>T

1 paper

NM_033284.2

p.D74N

c.220G>A

1 paper

NM_033284.2

p.S75I

c.224G>T

1 paper

NM_033284.2

p.R76C

c.226C>T

1 paper

NM_033284.2

p.S80A

c.238T>G