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

5 papers

NM_000939.4

p.R8C

c.22C>T

Surrounding Variants

1 paper

NM_000939.4

p.R8G

c.22C>G

2 papers

NM_000939.4

p.R8S

c.22C>A

1 paper

NM_000939.4

p.R3_S7del5

c.7_20del15

1 paper

NM_000939.4

p.R8L

c.23G>T

1 paper

NM_000939.4

p.R8P

c.23G>C

2 papers

NM_000939.4

p.R8H

c.23G>A

2 papers

NM_000939.4

p.S7_R8insFs

c.21_22insT

2 papers

NM_000939.4

p.S7fs

c.19_20fs

4 papers

NM_000939.4

p.S7insFs

c.20_21ins25

1 paper

NM_000939.4

p.S7T

c.20G>C

1 paper

NM_000939.4

p.S7N

c.20G>A

1 paper

NM_000939.4

p.R8R

c.24C>A