Varaico: Literature-Extracted Genetic Variants

Gene:WDFY2
Variant:p.F76L

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.F76L
c.226T>C
Surrounding Variants
1 paper
NM_052950.4
p.F76L
c.228T>A
1 paper
NM_052950.4
p.F76L
c.228T>G
1 paper
NM_052950.4
p.F76_N77insFs
c.228_229insA
2 papers
NM_052950.4
p.S75T
c.223T>A
1 paper
NM_052950.4
p.P78S
c.232C>T
1 paper
NM_052950.4
p.P78L
c.233C>T
1 paper
NM_052950.4
p.E79K
c.235G>A
1 paper
NM_052950.4
p.C73R
c.217T>C
1 paper
NM_052950.4
p.E79G
c.236A>G
1 paper
NM_052950.4
p.T80_L87del8
c.238_260del24
1 paper
NM_052950.4
p.S72*
c.215C>G
1 paper
NM_052950.4
p.T80A
c.238A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."