Varaico: Literature-Extracted Genetic Variants

Gene:FMOD
Variant:p.Q248*

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.Q248*
c.742C>T
Surrounding Variants
1 paper
NM_002023.5
p.H253H
c.759C>T
1 paper
NM_002023.5
p.T258P
c.772A>C
1 paper
NM_002023.5
p.L235P
c.704T>C
1 paper
NM_002023.5
p.P260P
c.780C>T
2 papers
NM_002023.5
p.A267V
c.800C>T
1 paper
NM_002023.5
p.I226M
c.678C>G
1 paper
NM_002023.5
p.L271Q
c.812T>A
1 paper
NM_002023.5
p.Y272H
c.814T>C
1 paper
NM_002023.5
p.R223W
c.667C>T
1 paper
NM_002023.5
p.R274W
c.820C>T
1 paper
NM_002023.5
p.E214D
c.642A>T
1 paper
NM_002023.5
p.E214D
c.642A>C
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