Varaico: Literature-Extracted Genetic Variants

Gene:PFN1
Variant:p.T109M

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
39 papers
NM_005022.4
p.T109M
c.326C>T
Surrounding Variants
1 paper
NM_005022.4
p.T109fs
c.325_326fs
1 paper
NM_005022.4
p.T109A
c.325A>G
5 papers
NM_005022.4
p.L112L
c.334C>T
3 papers
NM_005022.4
p.L112P
c.335T>C
1 paper
NM_005022.4
p.M114V
c.340A>G
73 papers
NM_005022.4
p.M114T
c.341T>C
1 paper
NM_005022.4
p.G115G
c.345C>T
1 paper
NM_005022.4
p.E117Q
c.349G>C
1 paper
NM_005022.4
p.E117K
c.349G>A
72 papers
NM_005022.4
p.E117G
c.350A>G
3 papers
NM_005022.4
p.E117D
c.351A>T
3 papers
NM_005022.4
p.E117D
c.351A>C
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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."