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

7 papers

NM_003906.5

p.Y889*

c.2667C>A

Surrounding Variants

7 papers

NM_003906.5

p.Y889*

c.2667C>G

1 paper

NM_003906.5

p.L885F

c.2653C>T

6 papers

NM_003906.5

p.R878H

c.2633G>A

1 paper

NM_003906.5

p.L901insFs

c.2701_2702insC

1 paper

NM_003906.5

p.L901fs

c.2701_2702fs

1 paper

NM_003906.5

p.R906C

c.2716C>T

1 paper

NM_003906.5

p.R906H

c.2717G>A

1 paper

NM_003906.5

p.M907T

c.2720T>C

7 papers

NM_003906.5

p.E915K

c.2743G>A

6 papers

NM_003906.5

p.S951P

c.2851T>C

4 papers

NM_003906.5

p.I954T

c.2861T>C

1 paper

NM_003906.5

p.P973L

c.2918C>T