Varaico: Literature-Extracted Genetic Variants

PADI1

305 papers

RefSeq Summary

This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the p...

Pfam Domains

PAD_Naa 1–113UCSCProtein-arginine deiminase (PAD) N-terminal domain

PAD_Maa 115–273UCSCProtein-arginine deiminase (PAD) middle domain

PADaa 281–660UCSCProtein-arginine deiminase (PAD)

Gene Aliases

HGNC Name

peptidyl arginine deiminase 1

HGNC Alias Symbols

HPAD10; PDI1; PDI; PAD1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_013358.3

p.E462G

c.1385A>G

Surrounding Variants

1 paper

NM_013358.3

p.L463delFs

c.1389delC

1 paper

NM_013358.3

p.W467R

c.1399T>A

1 paper

NM_013358.3

p.W467R

c.1399T>C

1 paper

NM_013358.3

p.V457E

c.1370T>A

1 paper

NM_013358.3

p.A454G

c.1361C>G

1 paper

NM_013358.3

p.R449Q

c.1346G>A

1 paper

NM_013358.3

p.R442Q

c.1325G>A

1 paper

NM_013358.3

p.F488L

c.1462T>C

1 paper

NM_013358.3

p.F488L

c.1464C>A

1 paper

NM_013358.3

p.F488L

c.1464C>G

1 paper

NM_013358.3

p.R489W

c.1465C>T

1 paper

NM_013358.3

p.R489Q

c.1466G>A