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.I43N

c.128T>A

Surrounding Variants

1 paper

NM_002913.5

p.K44_V45Splc

c.132+2T>C

1 paper

NM_002913.5

p.K41*

c.121A>T

1 paper

NM_002913.5

p.K35N

c.105A>T

1 paper

NM_002913.5

p.K35N

c.105A>C

1 paper

NM_002913.5

p.K35T

c.104A>C

1 paper

NM_002913.5

p.E32K

c.94G>A

1 paper

NM_002913.5

p.T27I

c.80C>T

1 paper

NM_002913.5

p.E19G

c.56A>G

1 paper

NM_002913.5

p.L16P

c.47T>C

1 paper

NM_002913.5

p.F7S

c.20T>C

1 paper

NM_002913.5

p.F6L

c.16T>C

1 paper

NM_002913.5

p.I3T

c.8T>C