Varaico: Literature-Extracted Genetic Variants

Gene:PFN1
Variant:p.N10S

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.N10S
c.29A>G
Surrounding Variants
3 papers
NM_005022.4
p.L11F
c.31C>T
1 paper
NM_005022.4
p.M12I
c.36G>C
2 papers
NM_005022.4
p.A13T
c.37G>A
1 paper
NM_005022.4
p.A13V
c.38C>T
29 papers
NM_005022.4
p.Y7F
c.20A>T
1 paper
NM_005022.4
p.A6G
c.17C>G
2 papers
NM_005022.4
p.G15R
c.43G>C
2 papers
NM_005022.4
p.G15R
c.43G>A
1 paper
NM_005022.4
p.G15G
c.45G>C
1 paper
NM_005022.4
p.W4C
c.12G>C
1 paper
NM_005022.4
p.C17G
c.49T>G
1 paper
NM_005022.4
p.A2A
c.6C>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."