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.G96R

c.286G>C

Surrounding Variants

3 papers

NM_000939.4

p.G96C

c.286G>T

1 paper

NM_000939.4

p.G96S

c.286G>A

1 paper

NM_000939.4

p.G96V

c.287G>T

1 paper

NM_000939.4

p.G96A

c.287G>C

1 paper

NM_000939.4

p.G96D

c.287G>A

1 paper

NM_000939.4

p.S95I

c.284G>T

1 paper

NM_000939.4

p.S95T

c.284G>C

2 papers

NM_000939.4

p.S95N

c.284G>A

1 paper

NM_000939.4

p.G96G

c.288C>T

1 paper

NM_000939.4

p.S97C

c.289A>T

1 paper

NM_000939.4

p.S95C

c.283A>T

2 papers

NM_000939.4

p.S97G

c.289A>G