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

3 papers

NM_000939.4

p.N91S

c.272A>G

Surrounding Variants

1 paper

NM_000939.4

p.N91I

c.272A>T

1 paper

NM_000939.4

p.N91T

c.272A>C

1 paper

NM_000939.4

p.N91K

c.273C>G

1 paper

NM_000939.4

p.N91K

c.273C>A

1 paper

NM_000939.4

p.N91D

c.271A>G

1 paper

NM_000939.4

p.N91H

c.271A>C

1 paper

NM_000939.4

p.S92C

c.274A>T

1 paper

NM_000939.4

p.S92G

c.274A>G

1 paper

NM_000939.4

p.S92R

c.274A>C

2 papers

NM_000939.4

p.R90L

c.269G>T

1 paper

NM_000939.4

p.S92I

c.275G>T

2 papers

NM_000939.4

p.R90P

c.269G>C