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.S1121delFs

c.3361delT

Surrounding Variants

1 paper

NM_014287.4

p.D1115E

c.3345C>A

1 paper

NM_014287.4

p.D1115E

c.3345C>G

1 paper

NM_014287.4

p.E1108_N1109Splc

c.3325-5C>T

1 paper

NM_014287.4

p.I1141F

c.3421A>T

1 paper

NM_014287.4

p.T1148M

c.3443C>T

1 paper

NM_014287.4

p.E1108_N1109Splc

c.3324+4A>G

1 paper

NM_014287.4

p.E1108K

c.3322G>A

1 paper

NM_014287.4

p.D1106D

c.3318C>T

1 paper

NM_014287.4

p.N1085S

c.3254A>G

1 paper

NM_014287.4

p.L1083F

c.3247C>T

1 paper

NM_014287.4

p.E1081K

c.3241G>A

3 papers

NM_014287.4

p.T1072T

c.3216A>G