Varaico: Literature-Extracted Genetic Variants

Gene:WDFY2
Variant:p.Q18L

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
4 papers
NM_052950.4
p.Q18L
c.53A>T
Surrounding Variants
2 papers
NM_052950.4
p.Q18R
c.53A>G
2 papers
NM_052950.4
p.L17L
c.51G>A
1 paper
NM_052950.4
p.L17M
c.49C>A
1 paper
NM_052950.4
p.L17V
c.49C>G
1 paper
NM_052950.4
p.R19R
c.57G>A
1 paper
NM_052950.4
p.M20V
c.58A>G
1 paper
NM_052950.4
p.L16Q
c.47T>A
2 papers
NM_052950.4
p.M20T
c.59T>C
1 paper
NM_052950.4
p.L16R
c.47T>G
1 paper
NM_052950.4
p.L16M
c.46C>A
1 paper
NM_052950.4
p.I15I
c.45C>A
1 paper
NM_052950.4
p.E21V
c.62A>T
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