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.K260R

c.779A>G

Surrounding Variants

1 paper

NM_002913.5

p.S259T

c.776G>C

1 paper

NM_002913.5

p.P267T

c.799C>A

1 paper

NM_002913.5

p.H268Y

c.802C>T

1 paper

NM_002913.5

p.H268Q

c.804T>G

1 paper

NM_002913.5

p.H268Q

c.804T>A

1 paper

NM_002913.5

p.T250M

c.749C>T

1 paper

NM_002913.5

p.A247V

c.740C>T

5 papers

NM_002913.5

p.R242*

c.724C>T

1 paper

NM_002913.5

p.K240_A241Splc

c.721-15T>C

1 paper

NM_002913.5

p.S276L

c.827C>T

1 paper

NM_002913.5

p.S281R

c.843C>A

2 papers

NM_002913.5

p.S288C

c.862A>T