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.F484S

c.1451T>C

Surrounding Variants

1 paper

NM_014287.4

p.T483I

c.1448C>T

1 paper

NM_014287.4

p.L486insFs

c.1456dupC

1 paper

NM_014287.4

p.Q482Q

c.1446G>A

1 paper

NM_014287.4

p.T487_V488del2

c.1459_1463del6

1 paper

NM_014287.4

p.P481S

c.1441C>T

1 paper

NM_014287.4

p.P481_T483del3

c.1441_1448del9

1 paper

NM_014287.4

p.N490delFs

c.1469delA

3 papers

NM_014287.4

p.N490D

c.1468A>G

1 paper

NM_014287.4

p.L479_P481del3

c.1435_1442del9

2 papers

NM_014287.4

p.M493V

c.1477A>G

1 paper

NM_014287.4

p.V468_P469del2

c.1402_1406del6

1 paper

NM_014287.4

p.S504L

c.1511C>T