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.S48C

c.143C>G

Surrounding Variants

1 paper

NM_002913.5

p.R49H

c.146G>A

2 papers

NM_002913.5

p.K55E

c.163A>G

1 paper

NM_002913.5

p.K55R

c.164A>G

1 paper

NM_002913.5

p.K57fs

c.169_170fs

1 paper

NM_002913.5

p.K63R

c.188A>G

1 paper

NM_002913.5

p.D70Splc

c.208+972T>G

1 paper

NM_002913.5

p.K84M

c.251A>T

1 paper

NM_002913.5

p.S92C

c.275C>G

1 paper

NM_002913.5

p.K97E

c.289A>G

1 paper

NM_002913.5

p.Y106C

c.317A>G

1 paper

NM_002913.5

p.D111Splc

c.331+133A>T

1 paper

NM_002913.5

p.K44_V45Splc

c.132+2T>C