Varaico: Literature-Extracted Genetic Variants

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

2 papers

NM_018179.5

p.S502L

c.1505C>T

Surrounding Variants

1 paper

NM_018179.5

p.S496C

c.1487C>G

1 paper

NM_018179.5

p.N514H

c.1540A>C

1 paper

NM_018179.5

p.E490*

c.1468G>T

1 paper

NM_018179.5

p.E515*

c.1543G>T

1 paper

NM_018179.5

p.E469Q

c.1405G>C

1 paper

NM_018179.5

p.N464S

c.1391A>G

1 paper

NM_018179.5

p.D461N

c.1381G>A

1 paper

NM_018179.5

p.D447_E448ins1

c.1341_1342insGAA

1 paper

NM_018179.5

p.D447_E448insFs

c.1341_1342ins7

1 paper

NM_018179.5

p.D447fs

c.1339_1340fs

1 paper

NM_018179.5

p.K419R

c.1256A>G

1 paper

NM_018179.5

p.N398S

c.1193A>G