Varaico: Literature-Extracted Genetic Variants

Gene:ZNF444

ZNF444

23 papers

RefSeq Summary

This gene encodes a zinc finger protein which activates transcription of a scavenger receptor gene involved in the degradation of acetylated low density lipoprotein (Ac-LDL) (PMID: 11978792). This gen...

Pfam Domains

SCANaa 16–104UCSCSCAN domain
zf-C2H2aa 207–229UCSCZinc finger, C2H2 type
zf-C2H2aa 278–300UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

zinc finger protein 444

HGNC Alias Symbols

ZSCAN17; FLJ11137; EZF2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 21 variants
3 papers
NM_018337.4
p.Q77_A78delFs
c.229_232del4
3 papers
NM_018337.4
p.T228_G231del4
c.682_692del12
2 papers
NM_018337.4
p.G107R
c.319G>A
2 papers
NM_018337.4
p.T228_G231del0
c.684_692del9
2 papers
NM_018337.4
p.H229_S232del4
c.685_695del12
2 papers
NM_018337.4
p.H229_S232del0
c.687_695del9
1 paper
NM_018337.4
p.W99_G100Splc
c.297+4639A>G
1 paper
NM_018337.4
p.G107R
c.319G>C
1 paper
NM_018337.4
p.D129N
c.385G>A
1 paper
NM_018337.4
p.M132I
c.396G>A
1 paper
NM_018337.4
p.M132I
c.396G>C
1 paper
NM_018337.4
p.M132I
c.396G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."