Varaico: Literature-Extracted Genetic Variants

Gene:NOMO2
Variant:p.G128E

NOMO2

507 papers

RefSeq Summary

This gene encodes a protein originally thought to be related to the collagenase gene family. This gene is one of three highly similar genes in a region of duplication located on the p arm of chromosom...

Pfam Domains

NOMO1-like_1staa 40–124UCSCBOS complex subunit NOMO1-like, first beta sandwich domain
NOMO1-like_2ndaa 126–215UCSCBOS complex subunit NOMO1-like, second beta sandwich domain
NOMO_3rdaa 218–327UCSCNOMO third transthyretin-like domain
CarboxypepD_regaa 330–406UCSCCarboxypeptidase regulatory-like domain
NOMO_5thaa 409–498UCSCNOMO fifth transthyretin-like domain
NOMO1-like_2ndaa 503–586UCSCBOS complex subunit NOMO1-like, second beta sandwich domain

Gene Aliases

HGNC Name

NODAL modulator 2

HGNC Alias Symbol

PM5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_173614.4
p.G128E
c.383G>A
Surrounding Variants
1 paper
NM_173614.4
p.I122_F124del3
c.364_371del9
1 paper
NM_173614.4
p.F124L
c.372T>G
1 paper
NM_173614.4
p.F124L
c.372T>A
1 paper
NM_173614.4
p.F124L
c.370T>C
1 paper
NM_173614.4
p.N132delFs
c.395delT
1 paper
NM_173614.4
p.G133V
c.398G>T
1 paper
NM_173614.4
p.G120A
c.359G>C
1 paper
NM_173614.4
p.I115_C116delFs
c.344_347del4
2 papers
NM_173614.4
p.C116Y
c.347G>A
1 paper
NM_173614.4
p.S113G
c.337A>G
1 paper
NM_173614.4
p.S113R
c.337A>C
1 paper
NM_173614.4
p.V112A
c.335T>C
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