Varaico: Literature-Extracted Genetic Variants

Gene:FMOD
Variant:p.F125del1

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.F125del1
c.373_374delAAA
Surrounding Variants
1 paper
NM_002023.5
p.Q116E
c.346C>G
1 paper
NM_002023.5
p.R106H
c.317G>A
1 paper
NM_002023.5
p.S105F
c.314C>T
1 paper
NM_002023.5
p.G147D
c.440G>A
1 paper
NM_002023.5
p.M90L
c.268A>T
1 paper
NM_002023.5
p.M90L
c.268A>C
1 paper
NM_002023.5
p.T88T
c.264G>A
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.N166H
c.496A>C
1 paper
NM_002023.5
p.R169Q
c.506G>A
1 paper
NM_002023.5
p.E79E
c.237G>A
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