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.A403A

c.1209T>C

Surrounding Variants

1 paper

NM_002913.5

p.N405fs

c.1213_1214fs

1 paper

NM_002913.5

p.N405delFs

c.1214delT

1 paper

NM_002913.5

p.G409D

c.1226G>A

1 paper

NM_002913.5

p.L410F

c.1228C>T

1 paper

NM_002913.5

p.G416D

c.1247G>A

1 paper

NM_002913.5

p.E419delFs

c.1255delC

1 paper

NM_002913.5

p.E419fs

c.1255_1256fs

3 papers

NM_002913.5

p.R423*

c.1267C>T

1 paper

NM_002913.5

p.R423delFs

c.1268delC

1 paper

NM_002913.5

p.E425Q

c.1273G>C

1 paper

NM_002913.5

p.E425A

c.1274A>C

12 papers

NM_002913.5

p.Y433S

c.1298A>C