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.L277_Q280del4

c.829_839del12

Surrounding Variants

2 papers

NM_020393.4

p.V292F

c.874G>T

1 paper

NM_020393.4

p.Q293P

c.878A>C

1 paper

NM_020393.4

p.G294delFs

c.881delC

1 paper

NM_020393.4

p.N275Splc

c.824+7G>A

1 paper

NM_020393.4

p.R266T

c.797G>C

1 paper

NM_020393.4

p.Q260R

c.779A>G

1 paper

NM_020393.4

p.L255V

c.763C>G

2 papers

NM_020393.4

p.R253C

c.757C>T

1 paper

NM_020393.4

p.G243R

c.727G>C

1 paper

NM_020393.4

p.G243R

c.727G>A

1 paper

NM_020393.4

p.P232R

c.695C>G

1 paper

NM_020393.4

p.V213I

c.637G>A