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.N162T

c.485A>C

Surrounding Variants

1 paper

NM_000939.4

p.N162S

c.485A>G

1 paper

NM_000939.4

p.N162K

c.486C>G

1 paper

NM_000939.4

p.N162K

c.486C>A

1 paper

NM_000939.4

p.N162D

c.484A>G

1 paper

NM_000939.4

p.G163C

c.487G>T

1 paper

NM_000939.4

p.G163R

c.487G>C

1 paper

NM_000939.4

p.G163S

c.487G>A

1 paper

NM_000939.4

p.G163V

c.488G>T

1 paper

NM_000939.4

p.G163A

c.488G>C

6 papers

NM_000939.4

p.G163D

c.488G>A

1 paper

NM_000939.4

p.P161L

c.482C>T

1 paper

NM_000939.4

p.P161S

c.481C>T