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

3 papers

NM_001177306.2

p.G436S

c.1306G>A

Surrounding Variants

1 paper

NM_001177306.2

p.L435V

c.1303C>G

2 papers

NM_001177306.2

p.S438P

c.1312T>C

1 paper

NM_001177306.2

p.K433K

c.1299G>A

1 paper

NM_001177306.2

p.K433fs

c.1297_1298fs

1 paper

NM_001177306.2

p.Q431*

c.1291C>T

1 paper

NM_001177306.2

p.K433delFs

c.1298delA

1 paper

NM_001177306.2

p.Q431fs

c.1291_1292fs

1 paper

NM_001177306.2

p.A427S

c.1279G>T

1 paper

NM_001177306.2

p.I426V

c.1276A>G

1 paper

NM_001177306.2

p.R448_V454delFs

c.1342_1361del20

1 paper

NM_001177306.2

p.R448M

c.1343G>T

1 paper

NM_001177306.2

p.R448S

c.1344G>C