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.L1256L

c.3768G>A

Surrounding Variants

1 paper

NM_003906.5

p.R1261W

c.3781C>T

1 paper

NM_003906.5

p.R1261L

c.3782G>T

1 paper

NM_003906.5

p.P1267L

c.3800C>T

1 paper

NM_003906.5

p.R1245Splc

c.3735-3C>A

8 papers

NM_003906.5

p.V1272M

c.3814G>A

1 paper

NM_003906.5

p.A1278V

c.3833C>T

1 paper

NM_003906.5

p.E1290Q

c.3868G>C

1 paper

NM_003906.5

p.A1302T

c.3904G>A

1 paper

NM_003906.5

p.S1308S

c.3924C>T

1 paper

NM_003906.5

p.R1207H

c.3620G>A

1 paper

NM_003906.5

p.R1207C

c.3619C>T

3 papers

NM_003906.5

p.N1317insFs

c.3949_3950insG