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.C5S

c.13T>A

Surrounding Variants

1 paper

NM_000939.4

p.C5G

c.13T>G

1 paper

NM_000939.4

p.C5R

c.13T>C

1 paper

NM_000939.4

p.C5S

c.14G>C

3 papers

NM_000939.4

p.C5Y

c.14G>A

2 papers

NM_000939.4

p.S4S

c.12G>A

3 papers

NM_000939.4

p.S4L

c.11C>T

1 paper

NM_000939.4

p.C5C

c.15C>T

1 paper

NM_000939.4

p.C5W

c.15C>G

1 paper

NM_000939.4

p.S4W

c.11C>G

16 papers

NM_000939.4

p.S4*

c.11C>A

1 paper

NM_000939.4

p.C6G

c.16T>G

1 paper

NM_000939.4

p.S4A

c.10T>G