Varaico: Literature-Extracted Genetic Variants

Gene:CAP2
Variant:p.E254fs

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.E254fs
c.760_761fs
Surrounding Variants
2 papers
NM_006366.3
p.S256P
c.766T>C
1 paper
NM_006366.3
p.R260L
c.779G>T
1 paper
NM_006366.3
p.Q266*
c.796C>T
1 paper
NM_006366.3
p.P237L
c.710C>T
1 paper
NM_006366.3
p.G276R
c.826G>A
1 paper
NM_006366.3
p.P229T
c.685C>A
1 paper
NM_006366.3
p.A221V
c.662C>T
1 paper
NM_006366.3
p.S217Y
c.650C>A
1 paper
NM_006366.3
p.R293W
c.877C>T
3 papers
NM_006366.3
p.P310T
c.928C>A
2 papers
NM_006366.3
p.T311A
c.931A>G
1 paper
NM_006366.3
p.S315Y
c.944C>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."