Varaico: Literature-Extracted Genetic Variants

Gene:NOMO2
Variant:p.M1I

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.M1I
c.3G>T
Surrounding Variants
1 paper
NM_173614.4
p.M1I
c.3G>C
1 paper
NM_173614.4
p.M1I
c.3G>A
1 paper
NM_173614.4
p.L2P
c.5T>C
1 paper
NM_173614.4
p.M1V
c.1A>G
1 paper
NM_173614.4
p.A7E
c.20C>A
1 paper
NM_173614.4
p.P12S
c.34C>T
1 paper
NM_173614.4
p.P12P
c.36C>T
1 paper
NM_173614.4
p.A13S
c.37G>T
1 paper
NM_173614.4
p.A13V
c.38C>T
1 paper
NM_173614.4
p.V14V
c.42G>C
2 papers
NM_173614.4
p.V15L
c.43G>C
1 paper
NM_173614.4
p.A17fs
c.49_50fs
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