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.T1757T

c.5271G>C

Surrounding Variants

1 paper

NM_003906.5

p.D1743G

c.5228A>G

1 paper

NM_003906.5

p.W1741L

c.5222G>T

1 paper

NM_003906.5

p.A1732T

c.5194G>A

1 paper

NM_003906.5

p.R1716G

c.5146A>G

1 paper

NM_003906.5

p.S1708F

c.5123C>T

1 paper

NM_003906.5

p.L1706F

c.5116C>T

1 paper

NM_003906.5

p.A1693fs

c.5077_5078fs

1 paper

NM_003906.5

p.D1771N

c.5311G>A

1 paper

NM_003906.5

p.Q1773K

c.5317C>A

1 paper

NM_003906.5

p.V1776A

c.5327T>C

3 papers

NM_003906.5

p.A1795T

c.5383G>A

5 papers

NM_003906.5

p.Q1804*

c.5410C>T