Varaico: Literature-Extracted Genetic Variants

Gene:SPRED2
Variant:p.R40C

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.R40C
c.118C>T
Surrounding Variants
1 paper
NM_181784.3
p.V41F
c.121G>T
1 paper
NM_181784.3
p.V41fs
c.121_122fs
1 paper
NM_181784.3
p.P49P
c.147C>G
1 paper
NM_181784.3
p.E50K
c.148G>A
1 paper
NM_181784.3
p.R23fs
c.67_68fs
1 paper
NM_181784.3
p.G56G
c.168C>G
1 paper
NM_181784.3
p.V20V
c.60T>C
1 paper
NM_181784.3
p.G61S
c.181G>A
3 papers
NM_181784.3
p.R63*
c.187C>T
1 paper
NM_181784.3
p.R63Q
c.188G>A
1 paper
NM_181784.3
p.R15C
c.43C>T
2 papers
NM_181784.3
p.D9Splc
c.27-20T>G
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