Varaico: Literature-Extracted Genetic Variants

Gene:PARVG
Variant:p.M271_L272Splc

PARVG

19 papers

RefSeq Summary

Members of the parvin family, including PARVG, are actin-binding proteins associated with focal contacts.[supplied by OMIM, Aug 2004].

Pfam Domains

CHaa 44–152UCSCCalponin homology (CH) domain
CHaa 210–318UCSCCalponin homology (CH) domain

Gene Aliases

HGNC Name

parvin gamma

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022141.7
p.M271_L272Splc
c.814-45G>A
Surrounding Variants
1 paper
NM_022141.7
p.D284E
c.852C>A
1 paper
NM_022141.7
p.D284E
c.852C>G
1 paper
NM_022141.7
p.S304C
c.910A>T
1 paper
NM_022141.7
p.C314S
c.940T>A
1 paper
NM_022141.7
p.C314S
c.941G>C
1 paper
NM_022141.7
p.T317T
c.951G>A
1 paper
NM_022141.7
p.Q318*
c.952C>T
1 paper
NM_022141.7
p.T325M
c.974C>T
1 paper
NM_022141.7
p.P330Q
c.989C>A
1 paper
NM_022141.7
p.P206A
c.616C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."