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.E170G

c.509A>G

Surrounding Variants

2 papers

NM_000939.4

p.E170A

c.509A>C

1 paper

NM_000939.4

p.E170D

c.510G>T

1 paper

NM_000939.4

p.E170D

c.510G>C

1 paper

NM_000939.4

p.E170K

c.508G>A

1 paper

NM_000939.4

p.A171S

c.511G>T

1 paper

NM_000939.4

p.A171P

c.511G>C

1 paper

NM_000939.4

p.A171T

c.511G>A

1 paper

NM_000939.4

p.A171V

c.512C>T

1 paper

NM_000939.4

p.A169V

c.506C>T

2 papers

NM_000939.4

p.A171G

c.512C>G

2 papers

NM_000939.4

p.A171D

c.512C>A

1 paper

NM_000939.4

p.A169D

c.506C>A