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.E45K

c.133G>A

Surrounding Variants

1 paper

NM_000939.4

p.E45Q

c.133G>C

3 papers

NM_000939.4

p.L44_E45Splc

c.133-1G>C

2 papers

NM_000939.4

p.E45V

c.134A>T

1 paper

NM_000939.4

p.E45A

c.134A>C

1 paper

NM_000939.4

p.E45D

c.135G>T

1 paper

NM_000939.4

p.E45D

c.135G>C

1 paper

NM_000939.4

p.L44_E45Splc

c.133-2A>G

3 papers

NM_000939.4

p.L44_E45Splc

c.133-2A>C

1 paper

NM_000939.4

p.C46G

c.136T>G

3 papers

NM_000939.4

p.C46R

c.136T>C

3 papers

NM_000939.4

p.C46S

c.136T>A

3 papers

NM_000939.4

p.C46S

c.137G>C