Varaico: Literature-Extracted Genetic Variants

Gene:SPRED2
Variant:p.R253H

SPRED2

59 papers

RefSeq Summary

SPRED2 is a member of the Sprouty (see SPRY1; MIM 602465)/SPRED family of proteins that regulate growth factor-induced activation of the MAP kinase cascade (see MAPK1; MIM 176948) (Nonami et al., 2004...

Pfam Domains

WH1aa 7–119UCSCWH1 domain
Sproutyaa 306–415UCSCSprouty protein (Spry)

Gene Aliases

HGNC Name

sprouty related EVH1 domain containing 2

HGNC Alias Symbols

Spred-2; FLJ21897; FLJ31917

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_181784.3
p.R253H
c.758G>A
Surrounding Variants
1 paper
NM_181784.3
p.F254L
c.760T>C
1 paper
NM_181784.3
p.F254L
c.762C>G
1 paper
NM_181784.3
p.F254L
c.762C>A
1 paper
NM_181784.3
p.S250fs
c.748_749fs
1 paper
NM_181784.3
p.S250delFs
c.748delA
1 paper
NM_181784.3
p.A247T
c.739G>A
NM_001128210.2
p.A244T
c.730G>A
1 paper
NM_181784.3
p.K261fs
c.781_782fs
1 paper
NM_181784.3
p.P260insFs
c.780dupC
1 paper
NM_181784.3
p.S244P
c.730T>C
1 paper
NM_181784.3
p.D242fs
c.724_725fs
1 paper
NM_181784.3
p.D242insFs
c.724dupG
1 paper
NM_181784.3
p.V269L
c.805G>T
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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."