Varaico: Literature-Extracted Genetic Variants

Gene:CHTF18
Variant:p.D284E

CHTF18

101 papers

RefSeq Summary

This gene encodes a protein which is a component of a replication factor C (RFC) complex, which loads proliferating cell nuclear antigen (PCNA) on to DNA during the S phase of cell cycle. The encoded ...

Pfam Domains

AAAaa 370–493UCSCATPase family associated with various cellular activities (AAA)

Gene Aliases

HGNC Name

chromosome transmission fidelity factor 18

HGNC Previous Symbol

C16orf41

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022092.3
p.D284E
c.852T>A
Surrounding Variants
1 paper
NM_022092.3
p.D284E
c.852T>G
5 papers
NM_022092.3
p.F286L
c.856T>C
5 papers
NM_022092.3
p.F286L
c.858T>A
5 papers
NM_022092.3
p.F286L
c.858T>G
2 papers
NM_022092.3
p.P270S
c.808C>T
1 paper
NM_022092.3
p.E269_T271delFs
c.805_812del8
2 papers
NM_022092.3
p.P266L
c.797C>T
1 paper
NM_022092.3
p.A260G
c.779C>G
1 paper
NM_022092.3
p.E258K
c.772G>A
1 paper
NM_022092.3
p.E257E
c.771G>A
2 papers
NM_022092.3
p.K244R
c.731A>G
1 paper
NM_022092.3
p.A242T
c.724G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."