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

1–12 of 199 variants

8 papers

NM_003906.5

p.M762T

c.2285T>C

8 papers

NM_003906.5

p.V1272M

c.3814G>A

7 papers

NM_003906.5

p.A867D

c.2600C>A

7 papers

NM_003906.5

p.Y889*

c.2667C>G

7 papers

NM_003906.5

p.Y889*

c.2667C>A

7 papers

NM_003906.5

p.E915K

c.2743G>A

7 papers

NM_003906.5

p.N1317fs

c.3949_3950fs

7 papers

NM_003906.5

p.E1577K

c.4729G>A

6 papers

NM_003906.5

p.P148fs

c.442_443fs

6 papers

NM_003906.5

p.L870S

c.2609T>C

6 papers

NM_003906.5

p.R878H

c.2633G>A

6 papers

NM_003906.5

p.S951P

c.2851T>C