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

2 papers

NM_000939.4

p.Q68K

c.202C>A

Surrounding Variants

7 papers

NM_000939.4

p.Q68*

c.202C>T

1 paper

NM_000939.4

p.Q68E

c.202C>G

1 paper

NM_000939.4

p.Q68L

c.203A>T

1 paper

NM_000939.4

p.Q68P

c.203A>C

1 paper

NM_000939.4

p.Q68H

c.204G>T

1 paper

NM_000939.4

p.Q68H

c.204G>C

1 paper

NM_000939.4

p.E67V

c.200A>T

1 paper

NM_000939.4

p.E67G

c.200A>G

1 paper

NM_000939.4

p.E67A

c.200A>C

4 papers

NM_000939.4

p.P69fs

c.205_206fs

1 paper

NM_000939.4

p.E67*

c.199G>T

1 paper

NM_000939.4

p.E67Q

c.199G>C