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.L70R

c.209T>G

Surrounding Variants

1 paper

NM_000939.4

p.L70P

c.209T>C

2 papers

NM_000939.4

p.L70Q

c.209T>A

1 paper

NM_000939.4

p.L70V

c.208C>G

1 paper

NM_000939.4

p.L70M

c.208C>A

2 papers

NM_000939.4

p.P69fs

c.205_206fs

1 paper

NM_000939.4

p.P69P

c.207T>C

8 papers

NM_000939.4

p.P69delFs

c.206delG

1 paper

NM_000939.4

p.T71S

c.211A>T

1 paper

NM_000939.4

p.T71A

c.211A>G

1 paper

NM_000939.4

p.T71P

c.211A>C

3 papers

NM_000939.4

p.P69L

c.206C>T

1 paper

NM_000939.4

p.T71S

c.212C>G