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.L612P

c.1835T>C

Surrounding Variants

1 paper

NM_002913.5

p.W614C

c.1842G>T

1 paper

NM_002913.5

p.W614C

c.1842G>C

1 paper

NM_002913.5

p.W618*

c.1853G>A

1 paper

NM_002913.5

p.W618*

c.1854G>A

1 paper

NM_002913.5

p.G603D

c.1808G>A

2 papers

NM_002913.5

p.S623F

c.1868C>T

2 papers

NM_002913.5

p.E624K

c.1870G>A

1 paper

NM_002913.5

p.K627R

c.1880A>G

1 paper

NM_002913.5

p.P592S

c.1774C>T

1 paper

NM_002913.5

p.K591M

c.1772A>T

3 papers

NM_002913.5

p.K580delFs

c.1739_1740delTT

1 paper

NM_002913.5

p.K580fs

c.1738_1739fs