Varaico: Literature-Extracted Genetic Variants

Gene:ZFYVE1

ZFYVE1

78 papers

RefSeq Summary

The FYVE domain mediates the recruitment of proteins involved in membrane trafficking and cell signaling to phosphatidylinositol 3-phosphate-containing membranes. This protein contains two zinc-bindin...

Pfam Domains

ANCHR-like_BBOXaa 70–118UCSCANCHR-like B-box zinc-binding domain
ANCHR-like_BBOXaa 70–118UCSCANCHR-like B-box zinc-binding domain
FYVEaa 594–660UCSCFYVE zinc finger
FYVEaa 711–775UCSCFYVE zinc finger

Gene Aliases

HGNC Name

zinc finger FYVE-type containing 1

HGNC Previous Symbol

ZNFN2A1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 47 variants
2 papers
NM_021260.4
p.V120M
c.358G>A
2 papers
NM_021260.4
p.R266Q
c.797G>A
2 papers
NM_021260.4
p.A646V
c.1937C>T
2 papers
NM_021260.4
p.C654S
c.1960T>A
2 papers
NM_021260.4
p.C654S
c.1961G>C
2 papers
NM_021260.4
p.C770S
c.2308T>A
2 papers
NM_021260.4
p.C770S
c.2309G>C
1 paper
NM_021260.4
p.K10N
c.30G>T
1 paper
NM_021260.4
p.K10N
c.30G>C
1 paper
NM_021260.4
p.C24S
c.70T>A
1 paper
NM_021260.4
p.S25N
c.74G>A
1 paper
NM_021260.4
p.E29K
c.85G>A
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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."