Varaico: Literature-Extracted Genetic Variants

Gene:NOMO2
Variant:p.N724delFs

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.N724delFs
c.2170delT
Surrounding Variants
2 papers
NM_173614.4
p.N726K
c.2178T>G
2 papers
NM_173614.4
p.N726K
c.2178T>A
1 paper
NM_173614.4
p.R717C
c.2149C>T
1 paper
NM_173614.4
p.A716P
c.2146G>C
1 paper
NM_173614.4
p.T734I
c.2201C>T
1 paper
NM_173614.4
p.A712delFs
c.2136delA
2 papers
NM_173614.4
p.E708*
c.2122G>T
1 paper
NM_173614.4
p.D689N
c.2065G>A
1 paper
NM_173614.4
p.P777delFs
c.2330delG
1 paper
NM_173614.4
p.G797_L801del5
c.2389_2402del15
1 paper
NM_173614.4
p.H844Y
c.2530C>T
1 paper
NM_173614.4
p.S845N
c.2534G>A
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