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.Q102P

c.305A>C

Surrounding Variants

1 paper

NM_000939.4

p.Q102L

c.305A>T

1 paper

NM_000939.4

p.Q102R

c.305A>G

1 paper

NM_000939.4

p.Q102H

c.306G>T

1 paper

NM_000939.4

p.Q102H

c.306G>C

7 papers

NM_000939.4

p.Q102*

c.304C>T

1 paper

NM_000939.4

p.Q102E

c.304C>G

1 paper

NM_000939.4

p.Q102K

c.304C>A

1 paper

NM_000939.4

p.G101fs

c.301_302fs

1 paper

NM_000939.4

p.K103E

c.307A>G

1 paper

NM_000939.4

p.G101V

c.302G>T

1 paper

NM_000939.4

p.G101A

c.302G>C

2 papers

NM_000939.4

p.G101E

c.302G>A