Varaico: Literature-Extracted Genetic Variants

NOMO1

545 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 1

HGNC Alias Symbol

PM5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014287.4

p.G760R

c.2278G>A

Surrounding Variants

1 paper

NM_014287.4

p.G760R

c.2278G>C

1 paper

NM_014287.4

p.G760E

c.2279G>A

1 paper

NM_014287.4

p.V782I

c.2344G>A

2 papers

NM_014287.4

p.E786Splc

c.2356+2T>A

1 paper

NM_014287.4

p.R758W

c.2272C>T

1 paper

NM_014287.4

p.P737P

c.2211C>T

1 paper

NM_014287.4

p.T734I

c.2201C>T

1 paper

NM_014287.4

p.T734P

c.2200A>C

1 paper

NM_014287.4

p.G729G

c.2187C>T

1 paper

NM_014287.4

p.N726K

c.2178T>A

1 paper

NM_014287.4

p.N726K

c.2178T>G

1 paper

NM_014287.4

p.N724delFs

c.2170delA