Varaico: Literature-Extracted Genetic Variants

GPAM

97 papers

RefSeq Summary

This gene encodes a mitochondrial enzyme which prefers saturated fatty acids as its substrate for the synthesis of glycerolipids. This metabolic pathway's first step is catalyzed by the encoded enzyme...

Pfam Domains

Acyltransferaseaa 205–355UCSCAcyltransferase

GPAT_Caa 364–795UCSCGlycerol-3-phosphate acyltransferase C-terminal region

Gene Aliases

HGNC Name

glycerol-3-phosphate acyltransferase, mitochondrial

HGNC Alias Symbols

KIAA1560; MGC26846; GPAT1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

15 papers

NM_001244949.2

p.I43V

c.127A>G

Surrounding Variants

1 paper

NM_001244949.2

p.R45G

c.133A>G

1 paper

NM_001244949.2

p.K52R

c.155A>G

1 paper

NM_001244949.2

p.K52N

c.156A>T

1 paper

NM_001244949.2

p.L55L

c.165A>T

1 paper

NM_001244949.2

p.R58W

c.172C>T

1 paper

NM_001244949.2

p.S19*

c.56C>G

1 paper

NM_001244949.2

p.S19*

c.56C>A

1 paper

NM_001244949.2

p.P17L

c.50C>T

1 paper

NM_001244949.2

p.A5P

c.13G>C

1 paper

NM_001244949.2

p.P84L

c.251C>T

1 paper

NM_001244949.2

p.R89fs

c.265_266fs

1 paper

NM_001244949.2

p.Y93*

c.279T>G