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.I258S

c.773T>G

Surrounding Variants

1 paper

NM_000939.4

p.I258T

c.773T>C

1 paper

NM_000939.4

p.I258N

c.773T>A

1 paper

NM_000939.4

p.I258M

c.774C>G

1 paper

NM_000939.4

p.I258L

c.772A>C

1 paper

NM_000939.4

p.I259F

c.775A>T

1 paper

NM_000939.4

p.I259V

c.775A>G

1 paper

NM_000939.4

p.I259N

c.776T>A

1 paper

NM_000939.4

p.A257V

c.770C>T

1 paper

NM_000939.4

p.A257D

c.770C>A

1 paper

NM_000939.4

p.A257S

c.769G>T

2 papers

NM_000939.4

p.A257T

c.769G>A

3 papers

NM_000939.4

p.I259M

c.777C>G