Varaico: Literature-Extracted Genetic Variants

Gene:CAPG
Variant:p.E27K

CAPG

635 papers

RefSeq Summary

This gene encodes a member of the gelsolin/villin family of actin-regulatory proteins. The encoded protein reversibly blocks the barbed ends of F-actin filaments in a Ca2+ and phosphoinositide-regulat...

Pfam Domains

Gelsolinaa 28–107UCSCGelsolin repeat
Gelsolinaa 146–221UCSCGelsolin repeat
Gelsolinaa 264–341UCSCGelsolin repeat

Gene Aliases

HGNC Name

capping actin protein, gelsolin like

HGNC Previous Symbol

AFCP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001747.4
p.E27K
c.79G>A
Surrounding Variants
1 paper
NM_001747.4
p.V26G
c.77T>G
1 paper
NM_001747.4
p.K28E
c.82A>G
1 paper
NM_001747.4
p.K28insFs
c.82_83insT
2 papers
NM_001747.4
p.R25P
c.74G>C
1 paper
NM_001747.4
p.R25W
c.73C>T
1 paper
NM_001747.4
p.P31R
c.92C>G
4 papers
NM_001747.4
p.P31P
c.93G>A
1 paper
NM_001747.4
p.V32M
c.94G>A
1 paper
NM_001747.4
p.V32V
c.96G>A
1 paper
NM_001747.4
p.V34L
c.100G>T
1 paper
NM_001747.4
p.V34L
c.100G>C
1 paper
NM_001747.4
p.A35V
c.104C>T
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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."