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.L18L

c.54T>A

Surrounding Variants

1 paper

NM_000939.4

p.L18R

c.53T>G

1 paper

NM_000939.4

p.L18P

c.53T>C

1 paper

NM_000939.4

p.Q19*

c.55C>T

1 paper

NM_000939.4

p.Q19E

c.55C>G

1 paper

NM_000939.4

p.Q19K

c.55C>A

1 paper

NM_000939.4

p.L18F

c.52C>T

1 paper

NM_000939.4

p.L18V

c.52C>G

1 paper

NM_000939.4

p.Q19L

c.56A>T

1 paper

NM_000939.4

p.Q19R

c.56A>G

1 paper

NM_000939.4

p.Q19P

c.56A>C

1 paper

NM_000939.4

p.Q19H

c.57G>T

1 paper

NM_000939.4

p.L17_L18insFs

c.51_52insC