Varaico: Literature-Extracted Genetic Variants

Gene:WDFY2
Variant:p.R54G

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
2 papers
NM_052950.4
p.R54G
c.160A>G
Surrounding Variants
3 papers
NM_052950.4
p.R54*
c.160A>T
1 paper
NM_052950.4
p.K53N
c.159G>C
1 paper
NM_052950.4
p.R54T
c.161G>C
1 paper
NM_052950.4
p.K53N
c.159G>T
1 paper
NM_052950.4
p.K53insFs
c.158_159insC
1 paper
NM_052950.4
p.R54S
c.162A>C
1 paper
NM_052950.4
p.R54S
c.162A>T
1 paper
NM_052950.4
p.L52_K53insFs
c.156_157insC
1 paper
NM_052950.4
p.L52F
c.156A>C
2 papers
NM_052950.4
p.L52F
c.156A>T
1 paper
NM_052950.4
p.D55V
c.164A>T
1 paper
NM_052950.4
p.S56G
c.166A>G
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