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.Y221Y

c.663C>T

Surrounding Variants

3 papers

NM_000939.4

p.R222W

c.664A>T

1 paper

NM_000939.4

p.Y221F

c.662A>T

16 papers

NM_000939.4

p.Y221C

c.662A>G

2 papers

NM_000939.4

p.R222G

c.664A>G

2 papers

NM_000939.4

p.Y221S

c.662A>C

1 paper

NM_000939.4

p.Y221_R222insC

c.661_665ins3

1 paper

NM_000939.4

p.Y221D

c.661T>G

1 paper

NM_000939.4

p.Y221H

c.661T>C

1 paper

NM_000939.4

p.Y221N

c.661T>A

1 paper

NM_000939.4

p.R222M

c.665G>T

1 paper

NM_000939.4

p.R222T

c.665G>C

3 papers

NM_000939.4

p.R222K

c.665G>A