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

1–12 of 187 variants

21 papers

NM_002913.5

p.A226V

c.677C>T

12 papers

NM_002913.5

p.Y433S

c.1298A>C

5 papers

NM_002913.5

p.R242*

c.724C>T

4 papers

NM_002913.5

p.N192delFs

c.575delT

4 papers

NM_002913.5

p.R388*

c.1162C>T

3 papers

NM_002913.5

p.M1I

c.3G>A

3 papers

NM_002913.5

p.R383*

c.1147C>T

3 papers

NM_002913.5

p.R423*

c.1267C>T

3 papers

NM_002913.5

p.K580delFs

c.1739_1740delTT

2 papers

NM_002913.5

p.K55E

c.163A>G

2 papers

NM_002913.5

p.V174A

c.521T>C

2 papers

NM_002913.5

p.S288C

c.862A>T