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.Q888delFs

c.2664delG

Surrounding Variants

1 paper

NM_014287.4

p.D886N

c.2656G>A

1 paper

NM_014287.4

p.L895*

c.2684T>A

1 paper

NM_014287.4

p.L895*

c.2684T>G

1 paper

NM_014287.4

p.S898S

c.2694C>T

1 paper

NM_014287.4

p.L907F

c.2721G>C

1 paper

NM_014287.4

p.L907F

c.2721G>T

1 paper

NM_014287.4

p.L919_S920Splc

c.2757+6G>A

1 paper

NM_014287.4

p.M929T

c.2786T>C

1 paper

NM_014287.4

p.M929I

c.2787G>A

1 paper

NM_014287.4

p.M929I

c.2787G>C

1 paper

NM_014287.4

p.M929I

c.2787G>T

1 paper

NM_014287.4

p.E932K

c.2794G>A