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

2 papers

NM_014409.4

p.R248*

c.742C>T

Surrounding Variants

1 paper

NM_014409.4

p.R248Q

c.743G>A

1 paper

NM_014409.4

p.R248R

c.744A>C

1 paper

NM_014409.4

p.S245N

c.734G>A

2 papers

NM_014409.4

p.V241I

c.721G>A

1 paper

NM_014409.4

p.I232fs

c.694_695fs

1 paper

NM_014409.4

p.Q269K

c.805C>A

1 paper

NM_014409.4

p.P226P

c.678C>T

1 paper

NM_014409.4

p.G222insFs

c.664_665ins5

1 paper

NM_014409.4

p.R217H

c.650G>A

2 papers

NM_014409.4

p.R217C

c.649C>T

1 paper

NM_014409.4

p.S215Y

c.644C>A

1 paper

NM_014409.4

p.L282P

c.845T>C