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

1–12 of 54 variants

3 papers

NM_014409.4

p.T375A

c.1123A>G

2 papers

NM_014409.4

p.R217C

c.649C>T

2 papers

NM_014409.4

p.V241I

c.721G>A

2 papers

NM_014409.4

p.R248*

c.742C>T

2 papers

NM_014409.4

p.F399S

c.1196T>C

2 papers

NM_014409.4

p.G508G

c.1524C>A

1 paper

NM_014409.4

p.R5C

c.13C>T

1 paper

NM_014409.4

p.T6I

c.17C>T

1 paper

NM_014409.4

p.E7K

c.19G>A

1 paper

NM_014409.4

p.R34Q

c.101G>A

1 paper

NM_014409.4

p.A43V

c.128C>T

1 paper

NM_014409.4

p.S52F

c.155C>T