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.N192fs

c.574_575fs

Surrounding Variants

4 papers

NM_002913.5

p.N192delFs

c.575delT

1 paper

NM_002913.5

p.Q206K

c.616C>A

1 paper

NM_002913.5

p.L209V

c.625C>G

1 paper

NM_002913.5

p.D210N

c.628G>A

1 paper

NM_002913.5

p.D210G

c.629A>G

1 paper

NM_002913.5

p.S184N

c.551G>A

1 paper

NM_002913.5

p.K179R

c.536A>G

2 papers

NM_002913.5

p.V174A

c.521T>C

1 paper

NM_002913.5

p.V174F

c.520G>T

1 paper

NM_002913.5

p.V174I

c.520G>A

1 paper

NM_002913.5

p.S164L

c.491C>T

1 paper

NM_002913.5

p.T132fs

c.394_395fs