Varaico: Literature-Extracted Genetic Variants

Gene:ZFYVE1
Variant:p.V120M

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
Selected Variant
2 papers
NM_021260.4
p.V120M
c.358G>A
Surrounding Variants
1 paper
NM_021260.4
p.E134_D136delFs
c.400_407del8
1 paper
NM_021260.4
p.K140R
c.419A>G
1 paper
NM_021260.4
p.Q93*
c.277C>T
1 paper
NM_021260.4
p.S150G
c.448A>G
1 paper
NM_021260.4
p.R87M
c.260G>T
1 paper
NM_021260.4
p.E156K
c.466G>A
1 paper
NM_021260.4
p.L43L
c.129C>T
1 paper
NM_021260.4
p.E29K
c.85G>A
1 paper
NM_021260.4
p.S25N
c.74G>A
1 paper
NM_021260.4
p.C24S
c.70T>A
1 paper
NM_021260.4
p.K10N
c.30G>T
1 paper
NM_021260.4
p.K10N
c.30G>C
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