Varaico: Literature-Extracted Genetic Variants

Gene:MMD2

MMD2

14 papers

RefSeq Summary

This gene encodes a member of the PAQR (progestin and adipoQ receptor) family. Members of this family are evolutionarily conserved with significant sequence identity to bacterial hemolysin-like protei...

Pfam Domains

HlyIIIaa 32–251UCSCHaemolysin-III related

Gene Aliases

HGNC Name

monocyte to macrophage differentiation associated 2

HGNC Alias Symbol

PAQR10

Papers
RefSeq ID
Protein change
DNA change
1–12 of 22 variants
2 papers
NM_198403.4
p.A116V
c.347C>T
1 paper
NM_198403.4
p.F2L
c.4T>C
1 paper
NM_198403.4
p.F2L
c.6C>G
1 paper
NM_198403.4
p.F2L
c.6C>A
1 paper
NM_198403.4
p.L6L
c.18G>A
1 paper
NM_198403.4
p.W45*
c.134G>A
1 paper
NM_198403.4
p.W45*
c.135G>A
1 paper
NM_198403.4
p.S94N
c.281G>A
1 paper
NM_198403.4
p.V99L
c.295G>T
1 paper
NM_198403.4
p.V99L
c.295G>C
1 paper
NM_198403.4
p.E100*
c.298G>T
1 paper
NM_198403.4
p.V110I
c.328G>A
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