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.L185R

c.554T>G

Surrounding Variants

1 paper

NM_000939.4

p.L185P

c.554T>C

1 paper

NM_000939.4

p.L185H

c.554T>A

1 paper

NM_000939.4

p.L185F

c.553C>T

1 paper

NM_000939.4

p.L185V

c.553C>G

1 paper

NM_000939.4

p.L185L

c.555C>A

1 paper

NM_000939.4

p.L185I

c.553C>A

1 paper

NM_000939.4

p.R186W

c.556C>T

1 paper

NM_000939.4

p.R186G

c.556C>G

1 paper

NM_000939.4

p.R186L

c.557G>T

1 paper

NM_000939.4

p.R184L

c.551G>T

1 paper

NM_000939.4

p.R186P

c.557G>C

1 paper

NM_000939.4

p.R184P

c.551G>C