Varaico: Literature-Extracted Genetic Variants

Gene:PFN1
Variant:p.P97H

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.P97H
c.290C>A
Surrounding Variants
1 paper
NM_005022.4
p.A96fs
c.286_287fs
1 paper
NM_005022.4
p.G94D
c.281G>A
1 paper
NM_005022.4
p.G94C
c.280G>T
1 paper
NM_005022.4
p.G94S
c.280G>A
1 paper
NM_005022.4
p.V103F
c.307G>T
1 paper
NM_005022.4
p.K91T
c.272A>C
1 paper
NM_005022.4
p.K91E
c.271A>G
1 paper
NM_005022.4
p.R89L
c.266G>T
1 paper
NM_005022.4
p.L88L
c.264T>C
5 papers
NM_005022.4
p.D107fs
c.319_320fs
1 paper
NM_005022.4
p.T106_D107insFs
c.318_319dupTG
1 paper
NM_005022.4
p.D107fs
c.319_320fs
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