Varaico: Literature-Extracted Genetic Variants

Gene:NOMO2
Variant:p.R152I

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
2 papers
NM_173614.4
p.R152I
c.455G>T
Surrounding Variants
1 paper
NM_173614.4
p.R152T
c.455G>C
1 paper
NM_173614.4
p.G155G
c.465G>T
1 paper
NM_173614.4
p.T156N
c.467C>A
1 paper
NM_173614.4
p.T156T
c.468C>T
1 paper
NM_173614.4
p.T156_E157delFs
c.468_469delCG
1 paper
NM_173614.4
p.G146*
c.436G>T
1 paper
NM_173614.4
p.G143V
c.428G>T
1 paper
NM_173614.4
p.G143D
c.428G>A
1 paper
NM_173614.4
p.Q161R
c.482A>G
1 paper
NM_173614.4
p.I160_Q161del1
c.479_481delGGA
1 paper
NM_173614.4
p.Q161del1
c.481_483delCTG
1 paper
NM_173614.4
p.L142V
c.424C>G
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