Varaico: Literature-Extracted Genetic Variants

Gene:GKAP1
Variant:p.Q65L

GKAP1

27 papers

RefSeq Summary

This gene encodes a protein that is highly similar to the mouse cGMP-dependent protein kinase anchoring protein 42kDa. The mouse protein has been found to localize with the Golgi and recruit cGMP-depe...

Gene Aliases

HGNC Name

G kinase anchoring protein 1

HGNC Alias Symbols

GKAP42; FKSG21

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_025211.4
p.Q65L
c.194A>T
Surrounding Variants
1 paper
NM_025211.4
p.G34S
c.100G>A
1 paper
NM_025211.4
p.G26S
c.76G>A
1 paper
NM_025211.4
p.L18delFs
c.52delG
1 paper
NM_025211.4
p.L18fs
c.52_53fs
1 paper
NM_025211.4
p.V89V
c.267T>C
1 paper
NM_025211.4
p.P101Q
c.302C>A
1 paper
NM_025211.4
p.K104N
c.312G>T
1 paper
NM_025211.4
p.K104N
c.312G>C
1 paper
NM_025211.4
p.W111fs
c.331_332fs
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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."