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.N64K

c.192T>A

Surrounding Variants

1 paper

NM_000939.4

p.N64K

c.192T>G

1 paper

NM_000939.4

p.N64N

c.192T>C

1 paper

NM_000939.4

p.G65C

c.193G>T

1 paper

NM_000939.4

p.G65R

c.193G>C

1 paper

NM_000939.4

p.G65S

c.193G>A

1 paper

NM_000939.4

p.N64S

c.191A>G

1 paper

NM_000939.4

p.N64T

c.191A>C

1 paper

NM_000939.4

p.G65V

c.194G>T

1 paper

NM_000939.4

p.G65A

c.194G>C

1 paper

NM_000939.4

p.N64Y

c.190A>T

1 paper

NM_000939.4

p.N64D

c.190A>G

1 paper

NM_000939.4

p.N64H

c.190A>C