Varaico: Literature-Extracted Genetic Variants

AGPAT4

36 papers

RefSeq Summary

This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. This integral membrane protein converts lysophosphatidic acid to phosphatidic acid, the second step in de novo ph...

Pfam Domains

Acyltransferaseaa 76–232UCSCAcyltransferase

Acyltransf_Caa 242–314UCSCAcyltransferase C-terminus

Gene Aliases

HGNC Name

1-acylglycerol-3-phosphate O-acyltransferase 4

HGNC Alias Symbols

LPAAT-delta; dJ473J16.2; LPAAT4; LPLAT4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020133.3

p.H250D

c.748C>G

Surrounding Variants

1 paper

NM_020133.3

p.L240L

c.720G>A

1 paper

NM_020133.3

p.S223_A224insFs

c.669_670insA

1 paper

NM_020133.3

p.V222Splc

c.665-2A>C

1 paper

NM_020133.3

p.R256Splc

c.768-2A>G

1 paper

NM_020133.3

p.D262Y

c.784G>T

1 paper

NM_020133.3

p.A272T

c.814G>A

1 paper

NM_020133.3

p.L218F

c.654G>T

1 paper

NM_020133.3

p.L218F

c.654G>C

1 paper

NM_020133.3

p.S217R

c.649A>C

1 paper

NM_020133.3

p.A212T

c.634G>A

2 papers

NM_020133.3

p.F170_F171Splc

c.511-2A>G

1 paper

NM_020133.3

p.E167insFs

c.500_501insTT