Varaico: Literature-Extracted Genetic Variants

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

1–12 of 208 variants

4 papers

NM_173614.4

p.V493M

c.1477G>A

2 papers

NM_173614.4

p.V15L

c.43G>C

2 papers

NM_173614.4

p.C116Y

c.347G>A

2 papers

NM_173614.4

p.R152I

c.455G>T

2 papers

NM_173614.4

p.R299K

c.896G>A

2 papers

NM_173614.4

p.R418H

c.1253G>A

2 papers

NM_173614.4

p.D490N

c.1468G>A

2 papers

NM_173614.4

p.E708*

c.2122G>T

2 papers

NM_173614.4

p.N726K

c.2178T>G

2 papers

NM_173614.4

p.N726K

c.2178T>A

2 papers

NM_173614.4

p.L906F

c.2716C>T

1 paper

NM_173614.4

p.M1V

c.1A>G