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

Selected Variant

2 papers

NM_173614.4

p.R418H

c.1253G>A

Surrounding Variants

1 paper

NM_173614.4

p.S415delFs

c.1245delT

1 paper

NM_173614.4

p.R413P

c.1238G>C

1 paper

NM_173614.4

p.D439G

c.1316A>G

1 paper

NM_173614.4

p.D448H

c.1342G>C

1 paper

NM_173614.4

p.F453L

c.1357T>C

1 paper

NM_173614.4

p.F453L

c.1359T>G

1 paper

NM_173614.4

p.F453L

c.1359T>A

1 paper

NM_173614.4

p.G460V

c.1379G>T

1 paper

NM_173614.4

p.Q465_V466Splc

c.1395+1G>A

1 paper

NM_173614.4

p.M467fs

c.1399_1400fs

1 paper

NM_173614.4

p.P469S

c.1405C>T

1 paper

NM_173614.4

p.V468_P469del0

c.1402_1407del6