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.Q183K

c.547C>A

Surrounding Variants

1 paper

NM_000939.4

p.Q183*

c.547C>T

1 paper

NM_000939.4

p.Q183E

c.547C>G

1 paper

NM_000939.4

p.Q183L

c.548A>T

1 paper

NM_000939.4

p.Q183R

c.548A>G

1 paper

NM_000939.4

p.Q183P

c.548A>C

1 paper

NM_000939.4

p.Q183H

c.549G>T

1 paper

NM_000939.4

p.G182V

c.545G>T

1 paper

NM_000939.4

p.Q183H

c.549G>C

1 paper

NM_000939.4

p.G182A

c.545G>C

1 paper

NM_000939.4

p.G182D

c.545G>A

1 paper

NM_000939.4

p.G182C

c.544G>T

1 paper

NM_000939.4

p.G182R

c.544G>C