Varaico: Literature-Extracted Genetic Variants

GNPAT

151 papers

RefSeq Summary

This gene encodes an enzyme located in the peroxisomal membrane which is essential to the synthesis of ether phospholipids. Mutations in this gene are associated with rhizomelic chondrodysplasia punct...

Pfam Domains

Acyltransferaseaa 138–283UCSCAcyltransferase

GPAT_Caa 293–644UCSCGlycerol-3-phosphate acyltransferase C-terminal region

Gene Aliases

HGNC Name

glyceronephosphate O-acyltransferase

HGNC Alias Symbols

DHAPAT; DAPAT; DAP-AT

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_014236.4

p.L476delFs

c.1428delC

Surrounding Variants

1 paper

NM_014236.4

p.M477delFs

c.1429_1430delAT

1 paper

NM_014236.4

p.M477fs

c.1429_1430fs

1 paper

NM_014236.4

p.L475L

c.1425C>T

2 papers

NM_014236.4

p.L470P

c.1409T>C

1 paper

NM_014236.4

p.M469T

c.1406T>C

2 papers

NM_014236.4

p.R491C

c.1471C>T

1 paper

NM_014236.4

p.R491H

c.1472G>A

1 paper

NM_014236.4

p.D461Y

c.1381G>T

1 paper

NM_014236.4

p.D458G

c.1373A>G

2 papers

NM_014236.4

p.V495delFs

c.1483delG

1 paper

NM_014236.4

p.V495fs

c.1483_1484fs

1 paper

NM_014236.4

p.T502A

c.1504A>G