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.I391V

c.1171A>G

Surrounding Variants

1 paper

NM_014287.4

p.T388M

c.1163C>T

1 paper

NM_014287.4

p.T388delFs

c.1162delA

2 papers

NM_014287.4

p.P395P

c.1185G>A

1 paper

NM_014287.4

p.L384L

c.1152C>T

1 paper

NM_014287.4

p.L400L

c.1200G>A

1 paper

NM_014287.4

p.D402G

c.1205A>G

1 paper

NM_014287.4

p.I403V

c.1207A>G

1 paper

NM_014287.4

p.I404V

c.1210A>G

1 paper

NM_014287.4

p.G407E

c.1220G>A

1 paper

NM_014287.4

p.R366H

c.1097G>A

1 paper

NM_014287.4

p.R366L

c.1097G>T

1 paper

NM_014287.4

p.D362N

c.1084G>A