Varaico: Literature-Extracted Genetic Variants

Gene:NOMO3
Variant:p.D262V

NOMO3

24 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 duplicated region on the short arm of chromosome 16. Th...

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 3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001004067.4
p.D262V
c.785A>T
Surrounding Variants
1 paper
NM_001004067.4
p.V357Splc
c.1069+1G>A
1 paper
NM_001004067.4
p.R366H
c.1097G>A
1 paper
NM_001004067.4
p.Y181*
c.543T>G
1 paper
NM_001004067.4
p.G169R
c.505G>A
1 paper
NM_001004067.4
p.G407Splc
c.1221-147C>T
1 paper
NM_001004067.4
p.V445M
c.1333G>A
1 paper
NM_001004067.4
p.H450R
c.1349A>G
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