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.A1134V

c.3401C>T

Surrounding Variants

1 paper

NM_003906.5

p.E1153K

c.3457G>A

1 paper

NM_003906.5

p.S1114F

c.3341C>T

1 paper

NM_003906.5

p.K1158T

c.3473A>C

2 papers

NM_003906.5

p.Q1159fs

c.3475_3476fs

1 paper

NM_003906.5

p.Q1159fs

c.3475_3476fs

2 papers

NM_003906.5

p.Q1159delFs

c.3476_3477delTT

1 paper

NM_003906.5

p.A1173A

c.3519C>G

1 paper

NM_003906.5

p.E1175*

c.3523G>T

1 paper

NM_003906.5

p.V1180M

c.3538G>A

1 paper

NM_003906.5

p.R1207C

c.3619C>T

1 paper

NM_003906.5

p.R1207H

c.3620G>A

1 paper

NM_003906.5

p.A1102V

c.3305C>T