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.N42S

c.125A>G

Surrounding Variants

1 paper

NM_000939.4

p.N42I

c.125A>T

2 papers

NM_000939.4

p.N42N

c.126C>T

1 paper

NM_000939.4

p.N42K

c.126C>G

1 paper

NM_000939.4

p.N42K

c.126C>A

1 paper

NM_000939.4

p.N42delFs

c.125delT

1 paper

NM_000939.4

p.N42D

c.124A>G

1 paper

NM_000939.4

p.N42H

c.124A>C

1 paper

NM_000939.4

p.L43V

c.127C>G

1 paper

NM_000939.4

p.S41R

c.123C>G

3 papers

NM_000939.4

p.S41R

c.123C>A

2 papers

NM_000939.4

p.L43M

c.127C>A

1 paper

NM_000939.4

p.S41T

c.122G>C