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

3 papers

NM_000939.4

p.W84R

c.250T>C

Surrounding Variants

1 paper

NM_000939.4

p.W84G

c.250T>G

3 papers

NM_000939.4

p.W84R

c.250T>A

3 papers

NM_000939.4

p.W84L

c.251G>T

1 paper

NM_000939.4

p.W84S

c.251G>C

16 papers

NM_000939.4

p.W84*

c.251G>A

1 paper

NM_000939.4

p.R83R

c.249C>A

1 paper

NM_000939.4

p.R83L

c.248G>T

1 paper

NM_000939.4

p.R83P

c.248G>C

14 papers

NM_000939.4

p.W84*

c.252G>A

2 papers

NM_000939.4

p.R83H

c.248G>A

1 paper

NM_000939.4

p.D85N

c.253G>A

1 paper

NM_000939.4

p.R83G

c.247C>G