Varaico: Literature-Extracted Genetic Variants

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

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

1 paper

NM_021260.4

p.L246V

c.736C>G

Surrounding Variants

1 paper

NM_021260.4

p.T243T

c.729C>A

2 papers

NM_021260.4

p.R266Q

c.797G>A

1 paper

NM_021260.4

p.L276I

c.826C>A

1 paper

NM_021260.4

p.K209E

c.625A>G

1 paper

NM_021260.4

p.Y287*

c.861T>G

1 paper

NM_021260.4

p.H199H

c.597C>T

1 paper

NM_021260.4

p.G192V

c.575G>T

1 paper

NM_021260.4

p.G190V

c.569G>T

1 paper

NM_021260.4

p.T189A

c.565A>G

1 paper

NM_021260.4

p.T310I

c.929C>T

1 paper

NM_021260.4

p.T163K

c.488C>A

1 paper

NM_021260.4

p.G373G

c.1119G>A