Varaico: Literature-Extracted Genetic Variants

Gene:PARVA
Variant:p.N58S

PARVA

30 papers

RefSeq Summary

This gene encodes a member of the parvin family of actin-binding proteins. Parvins are associated with focal contacts and contain calponin homology domains that bind to actin filaments. The encoded pr...

Pfam Domains

CHaa 95–203UCSCCalponin homology (CH) domain
CHaa 262–370UCSCCalponin homology (CH) domain

Gene Aliases

HGNC Name

parvin alpha

HGNC Previous Symbol

MXRA2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018222.5
p.N58S
c.173A>G
Surrounding Variants
1 paper
NM_018222.5
p.E67_L68insFs
c.201_202insAC
1 paper
NM_018222.5
p.R81Q
c.242G>A
1 paper
NM_018222.5
p.Q95Q
c.285A>G
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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."