Varaico: Literature-Extracted Genetic Variants

Gene:ATF7IP
Variant:p.K530R

ATF7IP

145 papers

RefSeq Summary

ATF7IP is a multifunctional nuclear protein that associates with heterochromatin. It can act as a transcriptional coactivator or corepressor depending upon its binding partners (summary by Liu et al.,...

Pfam Domains

ATF7IP_BDaa 564–779UCSCATF-interacting protein binding domain
fn3_4aa 1159–1260UCSCFibronectin-III type domain

Gene Aliases

HGNC Name

activating transcription factor 7 interacting protein

HGNC Alias Symbols

FLJ10688; p621; ATF7IP1; MCAF1; MCAF; AM

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
10 papers
NM_018179.5
p.K530R
c.1589A>G
Surrounding Variants
4 papers
NM_018179.5
p.N529S
c.1586A>G
1 paper
NM_018179.5
p.K527E
c.1579A>G
1 paper
NM_018179.5
p.E543D
c.1629A>C
1 paper
NM_018179.5
p.E543D
c.1629A>T
1 paper
NM_018179.5
p.R554fs
c.1660_1661fs
1 paper
NM_018179.5
p.R554*
c.1660C>T
1 paper
NM_018179.5
p.S559A
c.1675T>G
1 paper
NM_018179.5
p.R569H
c.1706G>A
1 paper
NM_018179.5
p.R570H
c.1709G>A
2 papers
NM_018179.5
p.R571Q
c.1712G>A
1 paper
NM_018179.5
p.E580fs
c.1738_1739fs
1 paper
NM_018179.5
p.V583E
c.1748T>A
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