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

3 papers

NM_014409.4

p.T375A

c.1123A>G

Surrounding Variants

1 paper

NM_014409.4

p.Y385C

c.1154A>G

2 papers

NM_014409.4

p.F399S

c.1196T>C

1 paper

NM_014409.4

p.A400T

c.1198G>A

1 paper

NM_014409.4

p.G343A

c.1028G>C

1 paper

NM_014409.4

p.L410L

c.1230G>A

1 paper

NM_014409.4

p.A423S

c.1267G>T

1 paper

NM_014409.4

p.S454S

c.1362C>T

1 paper

NM_014409.4

p.R468H

c.1403G>A

1 paper

NM_014409.4

p.S485F

c.1454C>T

1 paper

NM_014409.4

p.E488K

c.1462G>A

1 paper

NM_014409.4

p.G500E

c.1499G>A

2 papers

NM_014409.4

p.G508G

c.1524C>A