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.L250_V251delFs

c.750_751delCC

Surrounding Variants

1 paper

NM_000939.4

p.V251A

c.752T>C

1 paper

NM_000939.4

p.L250delFs

c.748_749delAG

1 paper

NM_000939.4

p.T252A

c.754A>G

1 paper

NM_000939.4

p.T252P

c.754A>C

3 papers

NM_000939.4

p.L250R

c.749T>G

1 paper

NM_000939.4

p.L250P

c.749T>C

10 papers

NM_000939.4

p.L250Q

c.749T>A

2 papers

NM_000939.4

p.T252M

c.755C>T

1 paper

NM_000939.4

p.T252R

c.755C>G

1 paper

NM_000939.4

p.T252K

c.755C>A

1 paper

NM_000939.4

p.L250fs

c.748_749fs

1 paper

NM_000939.4

p.L250L

c.748C>T