Varaico: Literature-Extracted Genetic Variants

Gene:PCNA
Variant:p.V48A

PCNA

2,862 papers

RefSeq Summary

The protein encoded by this gene is found in the nucleus and is a cofactor of DNA polymerase delta. The encoded protein acts as a homotrimer and helps increase the processivity of leading strand synth...

Pfam Domains

PCNA_Naa 1–125UCSCProliferating cell nuclear antigen, N-terminal domain
PCNA_Caa 127–254UCSCProliferating cell nuclear antigen, C-terminal domain

Gene Aliases

HGNC Name

proliferating cell nuclear antigen

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_182649.2
p.V48A
c.143T>C
Surrounding Variants
1 paper
NM_182649.2
p.V48fs
c.142_143fs
1 paper
NM_182649.2
p.V48M
c.142G>A
1 paper
NM_182649.2
p.L47del1
c.139_140delCAA
1 paper
NM_182649.2
p.Q49E
c.145C>G
1 paper
NM_182649.2
p.S46_V48del0
c.136_144del9
1 paper
NM_182649.2
p.L47*
c.140T>A
5 papers
NM_182649.2
p.Q49L
c.146A>T
1 paper
NM_182649.2
p.V48_Q49del1
c.143_145delGCA
1 paper
NM_182649.2
p.L47L
c.139T>C
1 paper
NM_182649.2
p.Q49H
c.147G>T
1 paper
NM_182649.2
p.V48_Q49insFs
c.144_145ins5
1 paper
NM_182649.2
p.Q49H
c.147G>C
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