Varaico: Literature-Extracted Genetic Variants

Gene:NOMO2
Variant:p.V493M

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
4 papers
NM_173614.4
p.V493M
c.1477G>A
Surrounding Variants
1 paper
NM_173614.4
p.P492A
c.1474C>G
1 paper
NM_173614.4
p.D490delFs
c.1469delT
2 papers
NM_173614.4
p.D490N
c.1468G>A
1 paper
NM_173614.4
p.T487_V488del2
c.1459_1463del6
1 paper
NM_173614.4
p.T489S
c.1466C>G
1 paper
NM_173614.4
p.T489S
c.1465A>T
1 paper
NM_173614.4
p.L486insFs
c.1456dupC
1 paper
NM_173614.4
p.F484S
c.1451T>C
1 paper
NM_173614.4
p.P481_T483del3
c.1441_1448del9
1 paper
NM_173614.4
p.T483I
c.1448C>T
1 paper
NM_173614.4
p.Q482Q
c.1446G>A
1 paper
NM_173614.4
p.L479_P481del3
c.1435_1442del9
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