Varaico: Literature-Extracted Genetic Variants

PAM

460 papers

RefSeq Summary

This gene encodes a multifunctional protein. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme includes two domains with distinct catalytic activities, ...

Pfam Domains

Cu2_monooxygenaa 1–99UCSCCopper type II ascorbate-dependent monooxygenase, N-terminal domain

Cu2_monooxygenaa 59–175UCSCCopper type II ascorbate-dependent monooxygenase, N-terminal domain

Cu2_monoox_Caa 195–342UCSCCopper type II ascorbate-dependent monooxygenase, C-terminal domain

NHLaa 471–498UCSCNHL repeat

NHLaa 523–552UCSCNHL repeat

NHLaa 576–604UCSCNHL repeat

Gene Aliases

HGNC Name

peptidylglycine alpha-amidating monooxygenase

HGNC Alias Symbols

PAL; PHM; PAM-1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001177306.2

p.Q571P

c.1712A>C

Surrounding Variants

1 paper

NM_001177306.2

p.G574_K575insFs

c.1722_1723insA

1 paper

NM_001177306.2

p.N566Y

c.1696A>T

19 papers

NM_001177306.2

p.D563G

c.1688A>G

1 paper

NM_001177306.2

p.I554M

c.1662T>G

2 papers

NM_001177306.2

p.I554V

c.1660A>G

2 papers

NM_001177306.2

p.G552R

c.1654G>A

2 papers

NM_001177306.2

p.G552R

c.1654G>C

1 paper

NM_001177306.2

p.L551_I554delFs

c.1653_1660del8

3 papers

NM_001177306.2

p.S542R

c.1626C>A

3 papers

NM_001177306.2

p.S542R

c.1626C>G

3 papers

NM_001177306.2

p.S542R

c.1624A>C

1 paper

NM_001177306.2

p.F540S

c.1619T>C