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.R154P

c.461G>C

Surrounding Variants

1 paper

NM_000939.4

p.R154L

c.461G>T

2 papers

NM_000939.4

p.R154Q

c.461G>A

1 paper

NM_000939.4

p.R154W

c.460C>T

2 papers

NM_000939.4

p.K153del1

c.457_458delCTT

1 paper

NM_000939.4

p.K153N

c.459G>T

1 paper

NM_000939.4

p.K153N

c.459G>C

1 paper

NM_000939.4

p.K153K

c.459G>A

1 paper

NM_000939.4

p.R155C

c.463C>T

1 paper

NM_000939.4

p.R155L

c.464G>T

1 paper

NM_000939.4

p.K153R

c.458A>G

1 paper

NM_000939.4

p.K153Q

c.457A>C

1 paper

NM_000939.4

p.K152K

c.456G>A