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

1–12 of 294 variants

6 papers

NM_014287.4

p.E1153G

c.3458A>G

6 papers

NM_014287.4

p.A1196V

c.3587C>T

3 papers

NM_014287.4

p.N490D

c.1468A>G

3 papers

NM_014287.4

p.E715K

c.2143G>A

3 papers

NM_014287.4

p.T1072T

c.3216A>G

2 papers

NM_014287.4

p.V15L

c.43G>C

2 papers

NM_014287.4

p.C116Y

c.347G>A

2 papers

NM_014287.4

p.R152I

c.455G>T

2 papers

NM_014287.4

p.R299K

c.896G>A

2 papers

NM_014287.4

p.P395P

c.1185G>A

2 papers

NM_014287.4

p.M493V

c.1477A>G

2 papers

NM_014287.4

p.E786Splc

c.2356+2T>A