Varaico: Literature-Extracted Genetic Variants

MCM8

129 papers

RefSeq Summary

The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein...

Pfam Domains

MCM8_Naa 93–201UCSCMCM8, N-terminal domain

MCM_OBaa 206–339UCSCMCM OB domain

MCMaa 389–613UCSCMCM P-loop domain

MCM_lidaa 664–748UCSCMCM AAA-lid domain

WHD_MCM8aa 760–839UCSCMCM8 winged helix domain

Gene Aliases

HGNC Name

minichromosome maintenance 8 homologous recombination repair factor

HGNC Previous Symbol

C20orf154

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001281522.2

p.Y429_V430del1

c.1286_1288delATG

Surrounding Variants

1 paper

NM_032485.6

p.P472S

c.1414C>T

1 paper

NM_001281522.2

p.T434_V442del9

c.1300_1325del27

3 papers

NM_001281522.2

p.T435M

c.1304C>T

NM_001281521.2

p.T522M

c.1565C>T

NM_032485.6

p.T482M

c.1445C>T

1 paper

NM_032485.6

p.A466V

c.1397C>T

2 papers

NM_032485.6

p.T490insFs

c.1469_1470insTA

7 papers

NM_032485.6

p.T490_L491insFs

c.1470_1471insTA

1 paper

NM_032485.6

p.L491fs

c.1471_1472fs

2 papers

NM_032485.6

p.L491fs

c.1471_1472fs

2 papers

NM_032485.6

p.S492*

c.1475C>A

NM_001281522.2

p.S445*

c.1334C>A

2 papers

NM_032485.6

p.S492*

c.1475C>G

NM_001281522.2

p.S445*

c.1334C>G

1 paper

NM_032485.6

p.A504D

c.1511C>A

1 paper

NM_032485.6

p.P456A

c.1366C>G