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

1–12 of 522 variants

5 papers

NM_052950.4

p.V31V

c.93G>A

5 papers

NM_052950.4

p.I172N

c.515T>A

4 papers

NM_052950.4

p.M1V

c.1A>G

4 papers

NM_052950.4

p.K8R

c.23A>G

4 papers

NM_052950.4

p.Q18L

c.53A>T

4 papers

NM_052950.4

p.W60G

c.178T>G

3 papers

NM_052950.4

p.M1T

c.2T>C

3 papers

NM_052950.4

p.R12delFs

c.35delG

3 papers

NM_052950.4

p.P14Q

c.41C>A

3 papers

NM_052950.4

p.R54*

c.160A>T

3 papers

NM_052950.4

p.S69Splc

c.205+8T>C

3 papers

NM_052950.4

p.S93_E94Splc

c.279+111A>G