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.L116V

c.346C>G

Surrounding Variants

1 paper

NM_000939.4

p.L116M

c.346C>A

1 paper

NM_000939.4

p.L116R

c.347T>G

1 paper

NM_000939.4

p.L116P

c.347T>C

1 paper

NM_000939.4

p.L116Q

c.347T>A

1 paper

NM_000939.4

p.P115P

c.345G>A

2 papers

NM_000939.4

p.P115L

c.344C>T

1 paper

NM_000939.4

p.P115R

c.344C>G

3 papers

NM_000939.4

p.P115Q

c.344C>A

1 paper

NM_000939.4

p.P117S

c.349C>T

1 paper

NM_000939.4

p.P115S

c.343C>T

1 paper

NM_000939.4

p.P117A

c.349C>G

1 paper

NM_000939.4

p.P115A

c.343C>G