Varaico: Literature-Extracted Genetic Variants

TAF5L

56 papers

RefSeq Summary

The product of this gene belongs to the WD-repeat TAF5 family of proteins. This gene encodes a protein that is a component of the PCAF histone acetylase complex. The PCAF histone acetylase complex, wh...

Pfam Domains

TFIID_NTD2aa 64–195UCSCWD40 associated region in TFIID subunit, NTD2 domain

WD40aa 260–296UCSCWD domain, G-beta repeat

WD40aa 332–370UCSCWD domain, G-beta repeat

WD40aa 373–412UCSCWD domain, G-beta repeat

WD40aa 416–454UCSCWD domain, G-beta repeat

WD40aa 458–496UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

TATA-box binding protein associated factor 5 like

HGNC Alias Symbol

PAF65B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014409.4

p.L167del1

c.499_500delGAG

Surrounding Variants

1 paper

NM_014409.4

p.R166H

c.497G>A

1 paper

NM_014409.4

p.D160G

c.479A>G

1 paper

NM_014409.4

p.D182V

c.545A>T

1 paper

NM_014409.4

p.I195T

c.584T>C

1 paper

NM_014409.4

p.E138E

c.414G>A

1 paper

NM_014409.4

p.K134*

c.400A>T

1 paper

NM_014409.4

p.T205P

c.613A>C

1 paper

NM_014409.4

p.S215Y

c.644C>A

2 papers

NM_014409.4

p.R217C

c.649C>T

1 paper

NM_014409.4

p.R217H

c.650G>A

1 paper

NM_014409.4

p.G222insFs

c.664_665ins5

1 paper

NM_014409.4

p.P226P

c.678C>T