Varaico: Literature-Extracted Genetic Variants

Gene:FMOD
Variant:p.Y45S

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.Y45S
c.134A>C
Surrounding Variants
2 papers
NM_002023.5
p.P46L
c.137C>T
1 paper
NM_002023.5
p.P46Q
c.137C>A
1 paper
NM_002023.5
p.P46P
c.138G>A
1 paper
NM_002023.5
p.D43E
c.129C>G
1 paper
NM_002023.5
p.D43E
c.129C>A
1 paper
NM_002023.5
p.Y47S
c.140A>C
1 paper
NM_002023.5
p.D43N
c.127G>A
2 papers
NM_002023.5
p.Y42S
c.125A>C
1 paper
NM_002023.5
p.P41L
c.122C>T
1 paper
NM_002023.5
p.Y50S
c.149A>C
2 papers
NM_002023.5
p.D40N
c.118G>A
1 paper
NM_002023.5
p.Y39S
c.116A>C
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