Varaico: Literature-Extracted Genetic Variants

Gene:PFN1
Variant:p.Q139L

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
26 papers
NM_005022.4
p.Q139L
c.416A>T
Surrounding Variants
1 paper
NM_005022.4
p.Q139Q
c.417G>A
1 paper
NM_005022.4
p.*141*
c.422G>A
1 paper
NM_005022.4
p.R137C
c.409C>T
29 papers
NM_005022.4
p.R136W
c.406C>T
1 paper
NM_005022.4
p.L135R
c.404T>G
1 paper
NM_005022.4
p.M131T
c.392T>C
3 papers
NM_005022.4
p.Y129F
c.386A>T
1 paper
NM_005022.4
p.Y129N
c.385T>A
1 paper
NM_005022.4
p.K127I
c.380A>T
1 paper
NM_005022.4
p.L123F
c.369G>T
1 paper
NM_005022.4
p.L123F
c.369G>C
1 paper
NM_005022.4
p.G121D
c.362G>A
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