Varaico: Literature-Extracted Genetic Variants

Gene:PFN1

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
1–12 of 95 variants
81 papers
NM_005022.4
p.C71G
c.211T>G
80 papers
NM_005022.4
p.G118V
c.353G>T
73 papers
NM_005022.4
p.M114T
c.341T>C
72 papers
NM_005022.4
p.E117G
c.350A>G
39 papers
NM_005022.4
p.T109M
c.326C>T
31 papers
NM_005022.4
p.A20T
c.58G>A
29 papers
NM_005022.4
p.Y7F
c.20A>T
29 papers
NM_005022.4
p.R136W
c.406C>T
26 papers
NM_005022.4
p.Q139L
c.416A>T
5 papers
NM_005022.4
p.D107fs
c.319_320fs
5 papers
NM_005022.4
p.L112L
c.334C>T
4 papers
NM_005022.4
p.P29L
c.86C>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."