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.E23K

c.67G>A

Surrounding Variants

1 paper

NM_000939.4

p.E23Q

c.67G>C

1 paper

NM_000939.4

p.M22I

c.66G>T

2 papers

NM_000939.4

p.M22fs

c.64_65fs

1 paper

NM_000939.4

p.M22I

c.66G>C

1 paper

NM_000939.4

p.M22I

c.66G>A

1 paper

NM_000939.4

p.E23V

c.68A>T

1 paper

NM_000939.4

p.E23G

c.68A>G

1 paper

NM_000939.4

p.E23A

c.68A>C

1 paper

NM_000939.4

p.M22R

c.65T>G

1 paper

NM_000939.4

p.M22T

c.65T>C

2 papers

NM_000939.4

p.M22K

c.65T>A

5 papers

NM_000939.4

p.M22delFs

c.64delT