Varaico: Literature-Extracted Genetic Variants

Gene:EPYC
Variant:p.I228L

EPYC

39 papers

RefSeq Summary

Dermatan sulfate proteoglycan 3 is a member of the small leucine-rich repeat proteoglycan family. This gene is composed of seven exons. It regulates fibrillogenesis by interacting with collagen fibril...

Pfam Domains

LRRNTaa 117–142UCSCLeucine rich repeat N-terminal domain
LRR_8aa 151–203UCSCLeucine rich repeat

Gene Aliases

HGNC Name

epiphycan

HGNC Previous Symbol

DSPG3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004950.5
p.I228L
c.682A>C
Surrounding Variants
1 paper
NM_004950.5
p.I228L
c.682A>T
1 paper
NM_004950.5
p.I228M
c.684A>G
2 papers
NM_004950.5
p.R194*
c.580C>T
1 paper
NM_004950.5
p.L190L
c.570G>A
2 papers
NM_004950.5
p.R188*
c.562C>T
1 paper
NM_004950.5
p.D185H
c.553G>C
1 paper
NM_004950.5
p.E184K
c.550G>A
1 paper
NM_004950.5
p.I182T
c.545T>C
1 paper
NM_004950.5
p.R151H
c.452G>A
2 papers
NM_004950.5
p.S150C
c.449C>G
1 paper
NM_004950.5
p.P140L
c.419C>T
1 paper
NM_004950.5
p.V128M
c.382G>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."