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

2 papers

NM_000939.4

p.R3S

c.9A>C

Surrounding Variants

2 papers

NM_000939.4

p.R3S

c.9A>T

1 paper

NM_000939.4

p.M1_R3delFs

c.3_7del5

1 paper

NM_000939.4

p.S4A

c.10T>G

1 paper

NM_000939.4

p.S4P

c.10T>C

1 paper

NM_000939.4

p.S4T

c.10T>A

1 paper

NM_000939.4

p.R3I

c.8G>T

1 paper

NM_000939.4

p.R3T

c.8G>C

2 papers

NM_000939.4

p.R3K

c.8G>A

3 papers

NM_000939.4

p.S4L

c.11C>T

1 paper

NM_000939.4

p.S4W

c.11C>G

16 papers

NM_000939.4

p.S4*

c.11C>A

2 papers

NM_000939.4

p.R3G

c.7A>G