Varaico: Literature-Extracted Genetic Variants

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.D311Y

c.931G>T

Surrounding Variants

1 paper

NM_003906.5

p.A309fs

c.925_926fs

1 paper

NM_003906.5

p.S316P

c.946T>C

1 paper

NM_003906.5

p.P301A

c.901C>G

2 papers

NM_003906.5

p.R333L

c.998G>T

1 paper

NM_003906.5

p.M288V

c.862A>G

1 paper

NM_003906.5

p.G335C

c.1003G>T

1 paper

NM_003906.5

p.R340W

c.1018C>T

1 paper

NM_003906.5

p.T341R

c.1022C>G

1 paper

NM_003906.5

p.H374Y

c.1120C>T

1 paper

NM_003906.5

p.Q382E

c.1144C>G

1 paper

NM_003906.5

p.N381_Q382insFs

c.1142_1145dup4

1 paper

NM_003906.5

p.E396K

c.1186G>A