Varaico: Literature-Extracted Genetic Variants

PGLYRP4

53 papers

RefSeq Summary

Summary: This gene encodes a peptidoglycan recognition protein, which belongs to the N-acetylmuramoyl-L-alanine amidase 2 family. These proteins are part of the innate immune system and recognize pept...

Pfam Domains

Amidase_2aa 72–213UCSCN-acetylmuramoyl-L-alanine amidase

Amidase_2aa 229–359UCSCN-acetylmuramoyl-L-alanine amidase

Gene Aliases

HGNC Name

peptidoglycan recognition protein 4

HGNC Alias Symbols

SBBI67; PGRPIB; PGLYRPIbeta; PGRP-Ibeta

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020393.4

p.P161L

c.482C>T

Surrounding Variants

3 papers

NM_020393.4

p.Y186fs

c.556_557fs

2 papers

NM_020393.4

p.Y186insFs

c.557dupA

1 paper

NM_020393.4

p.Y186*

c.558T>G

1 paper

NM_020393.4

p.Y186*

c.558T>A

8 papers

NM_020393.4

p.G192V

c.575G>T

2 papers

NM_020393.4

p.R201Q

c.602G>A

1 paper

NM_020393.4

p.P211T

c.631C>A

1 paper

NM_020393.4

p.V213I

c.637G>A

1 paper

NM_020393.4

p.P232R

c.695C>G

1 paper

NM_020393.4

p.G243R

c.727G>C

1 paper

NM_020393.4

p.G243R

c.727G>A

2 papers

NM_020393.4

p.R253C

c.757C>T