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.V211E

c.632T>A

Surrounding Variants

1 paper

NM_000939.4

p.V211G

c.632T>G

1 paper

NM_000939.4

p.V211A

c.632T>C

1 paper

NM_000939.4

p.V211L

c.631G>T

1 paper

NM_000939.4

p.V211L

c.631G>C

2 papers

NM_000939.4

p.V211M

c.631G>A

1 paper

NM_000939.4

p.A212S

c.634G>T

2 papers

NM_000939.4

p.A212P

c.634G>C

1 paper

NM_000939.4

p.A212T

c.634G>A

1 paper

NM_000939.4

p.L210R

c.629T>G

1 paper

NM_000939.4

p.L210P

c.629T>C

1 paper

NM_000939.4

p.L210Q

c.629T>A

2 papers

NM_000939.4

p.A212V

c.635C>T