Varaico: Literature-Extracted Genetic Variants

Gene:FMOD
Variant:p.E180K

FMOD

56 papers

RefSeq Summary

Fibromodulin belongs to the family of small interstitial proteoglycans. The encoded protein possesses a central region containing leucine-rich repeats with 4 keratan sulfate chains, flanked by termina...

Pfam Domains

LRRNTaa 75–105UCSCLeucine rich repeat N-terminal domain
LRR_8aa 105–169UCSCLeucine rich repeat
LRR_8aa 176–235UCSCLeucine rich repeat

Gene Aliases

HGNC Name

fibromodulin

HGNC Alias Symbol

SLRR2E

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002023.5
p.E180K
c.538G>A
Surrounding Variants
1 paper
NM_002023.5
p.S177S
c.531C>T
1 paper
NM_002023.5
p.S177C
c.530C>G
1 paper
NM_002023.5
p.D184N
c.550G>A
1 paper
NM_002023.5
p.P175R
c.524C>G
1 paper
NM_002023.5
p.H185D
c.553C>G
1 paper
NM_002023.5
p.N186S
c.557A>G
1 paper
NM_002023.5
p.R169Q
c.506G>A
1 paper
NM_002023.5
p.N166H
c.496A>C
1 paper
NM_002023.5
p.N165K
c.495C>G
1 paper
NM_002023.5
p.N165K
c.495C>A
1 paper
NM_002023.5
p.E211D
c.633G>T
1 paper
NM_002023.5
p.E211D
c.633G>C
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