Varaico: Literature-Extracted Genetic Variants

Gene:PFN1
Variant:p.C71G

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
81 papers
NM_005022.4
p.C71G
c.211T>G
Surrounding Variants
1 paper
NM_005022.4
p.C71F
c.212G>T
1 paper
NM_005022.4
p.Q69L
c.206A>T
2 papers
NM_005022.4
p.D76Y
c.226G>T
1 paper
NM_005022.4
p.L66F
c.196C>T
1 paper
NM_005022.4
p.T65I
c.194C>T
1 paper
NM_005022.4
p.L64L
c.192G>A
2 papers
NM_005022.4
p.V61M
c.181G>A
1 paper
NM_005022.4
p.Y60*
c.180C>G
1 paper
NM_005022.4
p.G82A
c.245G>C
1 paper
NM_005022.4
p.S57del1
c.169_170delTGA
1 paper
NM_005022.4
p.S85C
c.253A>T
1 paper
NM_005022.4
p.M86I
c.258G>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."