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.S102P

c.304T>C

Surrounding Variants

3 papers

NM_003906.5

p.S102L

c.305C>T

1 paper

NM_003906.5

p.F93fs

c.277_278fs

1 paper

NM_003906.5

p.T92delFs

c.276delG

1 paper

NM_003906.5

p.G109_S111del3

c.325_332del9

1 paper

NM_003906.5

p.Q77P

c.230A>C

1 paper

NM_003906.5

p.V70V

c.210G>A

1 paper

NM_003906.5

p.F139C

c.416T>G

1 paper

NM_003906.5

p.F139fs

c.415_416fs

1 paper

NM_003906.5

p.F139delFs

c.417delA

6 papers

NM_003906.5

p.P148fs

c.442_443fs

5 papers

NM_003906.5

p.P148fs

c.442_443fs

3 papers

NM_003906.5

p.P148delFs

c.443delG