Varaico: Literature-Extracted Genetic Variants

Gene:PFN1
Variant:p.F40F

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.F40F
c.120C>T
Surrounding Variants
1 paper
NM_005022.4
p.T39M
c.116C>T
1 paper
NM_005022.4
p.G37E
c.110G>A
4 papers
NM_005022.4
p.G37R
c.109G>C
4 papers
NM_005022.4
p.G37R
c.109G>A
1 paper
NM_005022.4
p.P36P
c.108C>T
1 paper
NM_005022.4
p.T44_P45Splc
c.132+4C>T
1 paper
NM_005022.4
p.T44_P45Splc
c.132+8G>A
1 paper
NM_005022.4
p.A33V
c.98C>T
1 paper
NM_005022.4
p.W32R
c.94T>C
1 paper
NM_005022.4
p.W32R
c.94T>A
1 paper
NM_005022.4
p.V31V
c.93C>T
1 paper
NM_005022.4
p.V31V
c.93C>G
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