Varaico: Literature-Extracted Genetic Variants

RFC1

327 papers

RefSeq Summary

This gene encodes the large subunit of replication factor C, a five subunit DNA polymerase accessory protein, which is a DNA-dependent ATPase required for eukaryotic DNA replication and repair. The la...

Pfam Domains

BRCTaa 402–479UCSCBRCA1 C Terminus (BRCT) domain

AAAaa 647–776UCSCATPase family associated with various cellular activities (AAA)

AAA_lid_RFC1aa 777–835UCSCRFC1-like, AAA+ ATPase lid domain

RFC1aa 915–1068UCSCReplication factor RFC1 C terminal domain

Gene Aliases

HGNC Name

replication factor C subunit 1

HGNC Alias Symbols

A1; PO-GA; RFC140; MHCBFB

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002913.5

p.Y330fs

c.988_989fs

Surrounding Variants

1 paper

NM_002913.5

p.Y330delFs

c.989delT

1 paper

NM_002913.5

p.K339R

c.1016A>G

2 papers

NM_002913.5

p.S317F

c.950C>T

1 paper

NM_002913.5

p.S317A

c.949T>G

1 paper

NM_002913.5

p.E350D

c.1050G>T

1 paper

NM_002913.5

p.E350D

c.1050G>C

1 paper

NM_002913.5

p.T351insFs

c.1051_1052ins5

1 paper

NM_002913.5

p.T351fs

c.1051_1052fs

1 paper

NM_002913.5

p.G308R

c.922G>C

1 paper

NM_002913.5

p.T353delFs

c.1057delT

1 paper

NM_002913.5

p.P354L

c.1061C>T

1 paper

NM_002913.5

p.A304T

c.910G>A