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.L13S

c.38T>C

Surrounding Variants

1 paper

NM_000939.4

p.L13V

c.37T>G

1 paper

NM_000939.4

p.L13M

c.37T>A

1 paper

NM_000939.4

p.L12L

c.36G>T

1 paper

NM_000939.4

p.L12fs

c.34_35fs

3 papers

NM_000939.4

p.L14L

c.40C>T

1 paper

NM_000939.4

p.L14V

c.40C>G

2 papers

NM_000939.4

p.L14M

c.40C>A

1 paper

NM_000939.4

p.L14R

c.41T>G

1 paper

NM_000939.4

p.L12R

c.35T>G

1 paper

NM_000939.4

p.L14P

c.41T>C

1 paper

NM_000939.4

p.L12P

c.35T>C

2 papers

NM_000939.4

p.L14Q

c.41T>A