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.A20D

c.59C>A

Surrounding Variants

1 paper

NM_000939.4

p.A20V

c.59C>T

1 paper

NM_000939.4

p.A20G

c.59C>G

1 paper

NM_000939.4

p.A20S

c.58G>T

1 paper

NM_000939.4

p.A20P

c.58G>C

2 papers

NM_000939.4

p.A20T

c.58G>A

1 paper

NM_000939.4

p.S21A

c.61T>G

1 paper

NM_000939.4

p.S21P

c.61T>C

1 paper

NM_000939.4

p.S21T

c.61T>A

1 paper

NM_000939.4

p.Q19H

c.57G>T

1 paper

NM_000939.4

p.Q19H

c.57G>C

1 paper

NM_000939.4

p.S21F

c.62C>T

1 paper

NM_000939.4

p.S21C

c.62C>G