Varaico: Literature-Extracted Genetic Variants

Gene:MCM3AP
Variant:p.A1495A

MCM3AP

157 papers

RefSeq Summary

The minichromosome maintenance protein 3 (MCM3) is one of the MCM proteins essential for the initiation of DNA replication. The protein encoded by this gene is a MCM3 binding protein. It was reported ...

Pfam Domains

NupH_GANPaa 2–291UCSCNucleoporin homology of Germinal-centre associated nuclear protein
SAC3_GANPaa 640–929UCSCSAC3/GANP family
CID_GANPaa 1164–1234UCSCBinding region of GANP to ENY2
MCM3AP_GANPaa 1262–1976UCSCMCM3AP domain of GANP

Gene Aliases

HGNC Name

minichromosome maintenance complex component 3 associated protein

HGNC Alias Symbols

Map80; KIAA0572; GANP; SAC3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003906.5
p.A1495A
c.4485G>A
Surrounding Variants
6 papers
NM_003906.5
p.S1478*
c.4433C>A
1 paper
NM_003906.5
p.G1517Splc
c.4549+1G>A
1 paper
NM_003906.5
p.V1474M
c.4420G>A
1 paper
NM_003906.5
p.M1464T
c.4391T>C
1 paper
NM_003906.5
p.Q1447*
c.4339C>T
1 paper
NM_003906.5
p.G1439V
c.4316G>T
1 paper
NM_003906.5
p.M1519V
c.4555A>G
1 paper
NM_003906.5
p.S1525L
c.4574C>T
1 paper
NM_003906.5
p.S1530L
c.4589C>T
2 papers
NM_003906.5
p.D1543E
c.4629T>G
2 papers
NM_003906.5
p.D1543E
c.4629T>A
1 paper
NM_003906.5
p.V1558G
c.4673T>G
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