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

6 papers

NM_014287.4

p.E1153G

c.3458A>G

Surrounding Variants

1 paper

NM_014287.4

p.R1149R

c.3447G>A

1 paper

NM_014287.4

p.R1149S

c.3447G>C

1 paper

NM_014287.4

p.R1149G

c.3445A>G

1 paper

NM_014287.4

p.R1149W

c.3445A>T

1 paper

NM_014287.4

p.T1148_R1149Splc

c.3445-4G>T

1 paper

NM_014287.4

p.L1191L

c.3573A>T

1 paper

NM_014287.4

p.R1195G

c.3583C>G

6 papers

NM_014287.4

p.A1196V

c.3587C>T

1 paper

NM_014287.4

p.G1198S

c.3592G>A

1 paper

NM_014287.4

p.Q1199H

c.3597G>C

1 paper

NM_014287.4

p.Q1199H

c.3597G>T

1 paper

NM_014287.4

p.R1212G

c.3634A>G