Varaico: Literature-Extracted Genetic Variants

Gene:RFC4
Variant:p.H301Q

RFC4

74 papers

RefSeq Summary

The elongation of primed DNA templates by DNA polymerase delta and DNA polymerase epsilon requires the accessory proteins proliferating cell nuclear antigen (PCNA) and replication factor C (RFC). RFC,...

Pfam Domains

AAAaa 74–202UCSCATPase family associated with various cellular activities (AAA)
RCF1-5-like_lidaa 209–250UCSCRCF1/5-like, AAA+ ATPase lid domain
Rep_fac_Caa 269–354UCSCReplication factor C C-terminal domain

Gene Aliases

HGNC Name

replication factor C subunit 4

HGNC Alias Symbols

A1; RFC37

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002916.5
p.H301Q
c.903T>G
Surrounding Variants
1 paper
NM_002916.5
p.H301Q
c.903T>A
1 paper
NM_002916.5
p.A303V
c.908C>T
1 paper
NM_002916.5
p.A303del1
c.907_908delTGC
1 paper
NM_002916.5
p.T304_N308del0
c.912_923del12
1 paper
NM_002916.5
p.D312del1
c.934_935delATC
2 papers
NM_002916.5
p.E316fs
c.946_947fs
1 paper
NM_002916.5
p.E316_N317delFs
c.947_950del4
1 paper
NM_002916.5
p.D321Y
c.961G>T
1 paper
NM_002916.5
p.K322fs
c.964_965fs
1 paper
NM_002916.5
p.K322_Q323delFs
c.964_968del5
1 paper
NM_002916.5
p.I327_T328ins0
c.980_982dupTCA
1 paper
NM_002916.5
p.T328ins1
c.982_983insACT
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