Varaico: Literature-Extracted Genetic Variants

Gene:PFN1
Variant:p.C17G

PFN1

226 papers

RefSeq Summary

This gene encodes a member of the profilin family of small actin-binding proteins. The encoded protein plays an important role in actin dynamics by regulating actin polymerization in response to extra...

Pfam Domains

Profilinaa 2–140UCSCProfilin

Gene Aliases

HGNC Name

profilin 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005022.4
p.C17G
c.49T>G
Surrounding Variants
1 paper
NM_005022.4
p.G15G
c.45G>C
2 papers
NM_005022.4
p.G15R
c.43G>C
2 papers
NM_005022.4
p.G15R
c.43G>A
31 papers
NM_005022.4
p.A20T
c.58G>A
1 paper
NM_005022.4
p.A13V
c.38C>T
2 papers
NM_005022.4
p.A13T
c.37G>A
1 paper
NM_005022.4
p.M12I
c.36G>C
3 papers
NM_005022.4
p.L11F
c.31C>T
1 paper
NM_005022.4
p.N10S
c.29A>G
1 paper
NM_005022.4
p.G24G
c.72C>A
1 paper
NM_005022.4
p.Y25C
c.74A>G
29 papers
NM_005022.4
p.Y7F
c.20A>T
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