Varaico: Literature-Extracted Genetic Variants

WDFY2

1,237 papers

RefSeq Summary

This gene encodes a protein that contains two WD domains and an FYVE zinc finger region. The function of this gene is unknown. An alternatively spliced transcript variant of this gene may exist. [prov...

Pfam Domains

WD40aa 189–227UCSCWD domain, G-beta repeat

WD40aa 233–270UCSCWD domain, G-beta repeat

FYVEaa 280–353UCSCFYVE zinc finger

WD40aa 356–394UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

WD repeat and FYVE domain containing 2

HGNC Alias Symbol

ZFYVE22

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_052950.4

p.R196*

c.586A>T

Surrounding Variants

1 paper

NM_052950.4

p.F195L

c.585C>A

1 paper

NM_052950.4

p.R196K

c.587G>A

1 paper

NM_052950.4

p.G197R

c.589G>A

1 paper

NM_052950.4

p.G197R

c.589G>C

1 paper

NM_052950.4

p.H198N

c.592C>A

1 paper

NM_052950.4

p.H198D

c.592C>G

1 paper

NM_052950.4

p.H198Y

c.592C>T

1 paper

NM_052950.4

p.T199A

c.595A>G

1 paper

NM_052950.4

p.G200Splc

c.598+1G>A

1 paper

NM_052950.4

p.C189W

c.567C>G

1 paper

NM_052950.4

p.N188K

c.564C>A

1 paper

NM_052950.4

p.N188_C189insFs

c.564_565insT