Varaico: Literature-Extracted Genetic Variants

POMC

960 papers

RefSeq Summary

This gene encodes a preproprotein that undergoes extensive, tissue-specific, post-translational processing via cleavage by subtilisin-like enzymes known as prohormone convertases. There are eight pote...

Pfam Domains

NPPaa 27–70UCSCPro-opiomelanocortin, N-terminal region

ACTH_domainaa 74–91UCSCCorticotropin ACTH domain

ACTH_domainaa 136–155UCSCCorticotropin ACTH domain

ACTH_domainaa 218–236UCSCCorticotropin ACTH domain

Op_neuropeptideaa 237–264UCSCOpioids neuropeptide

Gene Aliases

HGNC Name

proopiomelanocortin

HGNC Alias Symbols

ACTH; NPP; LPH

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000939.4

p.D36E

c.108C>A

Surrounding Variants

1 paper

NM_000939.4

p.D36E

c.108C>G

10 papers

NM_000939.4

p.L37F

c.109C>T

1 paper

NM_000939.4

p.L37V

c.109C>G

1 paper

NM_000939.4

p.L37I

c.109C>A

1 paper

NM_000939.4

p.D36V

c.107A>T

1 paper

NM_000939.4

p.D36A

c.107A>C

1 paper

NM_000939.4

p.L37R

c.110T>G

2 papers

NM_000939.4

p.L37P

c.110T>C

1 paper

NM_000939.4

p.L37H

c.110T>A

1 paper

NM_000939.4

p.D36Y

c.106G>T

1 paper

NM_000939.4

p.Q35H

c.105G>T

1 paper

NM_000939.4

p.Q35H

c.105G>C