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

4 papers

NM_002913.5

p.R388*

c.1162C>T

Surrounding Variants

1 paper

NM_002913.5

p.E389D

c.1167A>T

1 paper

NM_002913.5

p.E389D

c.1167A>C

1 paper

NM_002913.5

p.K392R

c.1175A>G

3 papers

NM_002913.5

p.R383*

c.1147C>T

1 paper

NM_002913.5

p.Q380E

c.1138C>G

1 paper

NM_002913.5

p.T377I

c.1130C>T

1 paper

NM_002913.5

p.K375delFs

c.1123delT

1 paper

NM_002913.5

p.E370D

c.1110A>T

1 paper

NM_002913.5

p.E370D

c.1110A>C

1 paper

NM_002913.5

p.K401_G402Splc

c.1203+59A>C

2 papers

NM_002913.5

p.E365K

c.1093G>A

1 paper

NM_002913.5

p.K363*

c.1087A>T