Varaico: Literature-Extracted Genetic Variants

Gene:ATF7IP
Variant:p.E318K

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
1 paper
NM_018179.5
p.E318K
c.952G>A
Surrounding Variants
3 papers
NM_018179.5
p.E318insFs
c.952_953insA
4 papers
NM_018179.5
p.E318fs
c.952_953fs
1 paper
NM_018179.5
p.N320delFs
c.959delA
2 papers
NM_018179.5
p.K319E
c.955A>G
1 paper
NM_018179.5
p.D315G
c.944A>G
1 paper
NM_018179.5
p.D323V
c.968A>T
1 paper
NM_018179.5
p.K312*
c.934A>T
1 paper
NM_018179.5
p.N311D
c.931A>G
1 paper
NM_018179.5
p.E327*
c.979G>T
1 paper
NM_018179.5
p.N344K
c.1032T>A
6 papers
NM_018179.5
p.N348I
c.1043A>T
1 paper
NM_018179.5
p.R287H
c.860G>A
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