Varaico: Literature-Extracted Genetic Variants

Gene:PFN1
Variant:p.L123F

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.L123F
c.369G>C
Surrounding Variants
1 paper
NM_005022.4
p.L123F
c.369G>T
1 paper
NM_005022.4
p.G121D
c.362G>A
1 paper
NM_005022.4
p.K127I
c.380A>T
1 paper
NM_005022.4
p.Y129N
c.385T>A
80 papers
NM_005022.4
p.G118V
c.353G>T
3 papers
NM_005022.4
p.Y129F
c.386A>T
3 papers
NM_005022.4
p.E117D
c.351A>T
3 papers
NM_005022.4
p.E117D
c.351A>C
2 papers
NM_005022.4
p.E117delins
c.350_351delinsGT
72 papers
NM_005022.4
p.E117G
c.350A>G
1 paper
NM_005022.4
p.E117Q
c.349G>C
1 paper
NM_005022.4
p.E117K
c.349G>A
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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."