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

2 papers

NM_000939.4

p.K51N

c.153G>C

Surrounding Variants

2 papers

NM_000939.4

p.K51N

c.153G>T

1 paper

NM_000939.4

p.P52S

c.154C>T

1 paper

NM_000939.4

p.P52A

c.154C>G

2 papers

NM_000939.4

p.P52T

c.154C>A

2 papers

NM_000939.4

p.K51T

c.152A>C

1 paper

NM_000939.4

p.I47_C50del4

c.139_149del12

1 paper

NM_000939.4

p.P52L

c.155C>T

1 paper

NM_000939.4

p.P52H

c.155C>A

9 papers

NM_000939.4

p.K51*

c.151A>T

2 papers

NM_000939.4

p.K51E

c.151A>G

1 paper

NM_000939.4

p.K51Q

c.151A>C

1 paper

NM_000939.4

p.K51_P52insC

c.151_155ins3