Varaico: Literature-Extracted Genetic Variants

Gene:CAP2
Variant:p.G126E

CAP2

56 papers

RefSeq Summary

This gene was identified by its similarity to the gene for human adenylyl cyclase-associated protein. The function of the protein encoded by this gene is unknown. However, the protein appears to be ab...

Pfam Domains

CAP_N-CMaa 5–36UCSCCAP N-terminal conserved motif
CAP_Naa 49–114UCSCCAP, N-terminal domain
CAP_Caa 209–363UCSCAdenylate cyclase associated (CAP) C terminal

Gene Aliases

HGNC Name

cyclase associated actin cytoskeleton regulatory protein 2

HGNC Previous Name

CAP, adenylate cyclase-associated protein, 2 (yeast)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006366.3
p.G126E
c.377G>A
Surrounding Variants
1 paper
NM_006366.3
p.F130L
c.388T>C
1 paper
NM_006366.3
p.E122K
c.364G>A
1 paper
NM_006366.3
p.F130L
c.390T>A
1 paper
NM_006366.3
p.F130L
c.390T>G
1 paper
NM_006366.3
p.V136A
c.407T>C
1 paper
NM_006366.3
p.P154L
c.461C>T
1 paper
NM_006366.3
p.S177Splc
c.531-1G>A
1 paper
NM_006366.3
p.R180H
c.539G>A
3 papers
NM_006366.3
p.T212_G213Splc
c.636+1G>A
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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."