Varaico: Literature-Extracted Genetic Variants

Gene:RFC1
Variant:p.M1I

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
3 papers
NM_002913.5
p.M1I
c.3G>A
Surrounding Variants
1 paper
NM_002913.5
p.M1_D2Splc
c.3+57G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."