Varaico: Literature-Extracted Genetic Variants

Gene:NOMO2
Variant:p.R299K

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.R299K
c.896G>A
Surrounding Variants
1 paper
NM_173614.4
p.E298Q
c.892G>C
1 paper
NM_173614.4
p.F294F
c.882C>T
1 paper
NM_173614.4
p.P293L
c.878C>T
1 paper
NM_173614.4
p.D310N
c.928G>A
1 paper
NM_173614.4
p.H315Y
c.943C>T
1 paper
NM_173614.4
p.H315R
c.944A>G
1 paper
NM_173614.4
p.G288G
c.864C>G
1 paper
NM_173614.4
p.Y282_L284insFs
c.844_850dup7
1 paper
NM_173614.4
p.G277D
c.830G>A
1 paper
NM_173614.4
p.D276Y
c.826G>T
1 paper
NM_173614.4
p.R274K
c.821G>A
1 paper
NM_173614.4
p.V272F
c.814G>T
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