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.Y263H

c.787T>C

Surrounding Variants

1 paper

NM_000939.4

p.Y263N

c.787T>A

1 paper

NM_000939.4

p.A262delFs

c.785delG

1 paper

NM_000939.4

p.Y263S

c.788A>C

1 paper

NM_000939.4

p.A262V

c.785C>T

1 paper

NM_000939.4

p.A262G

c.785C>G

1 paper

NM_000939.4

p.A262D

c.785C>A

1 paper

NM_000939.4

p.A262S

c.784G>T

1 paper

NM_000939.4

p.A262P

c.784G>C

1 paper

NM_000939.4

p.A262T

c.784G>A

1 paper

NM_000939.4

p.K264M

c.791A>T

1 paper

NM_000939.4

p.K264R

c.791A>G

2 papers

NM_000939.4

p.K264N

c.792G>T