Varaico: Literature-Extracted Genetic Variants

FASN

499 papers

RefSeq Summary

The enzyme encoded by this gene is a multifunctional protein. Its main function is to catalyze the synthesis of palmitate from acetyl-CoA and malonyl-CoA, in the presence of NADPH, into long-chain sat...

Pfam Domains

ketoacyl-syntaa 1–239UCSCBeta-ketoacyl synthase, N-terminal domain

Ketoacyl-synt_Caa 243–360UCSCBeta-ketoacyl synthase, C-terminal domain

KAsynt_C_assocaa 362–472UCSCKetoacyl-synthetase C-terminal extension

Acyl_transf_1aa 493–810UCSCAcyl transferase domain

PKS_DH_Naa 857–949UCSCPolyketide synthase dehydratase domain

Methyltransf_12aa 1243–1342UCSCMethyltransferase domain

Gene Aliases

HGNC Name

fatty acid synthase

HGNC Alias Symbol

SDR27X1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004104.5

p.A2029A

c.6087G>A

Surrounding Variants

1 paper

NM_004104.5

p.A2037V

c.6110C>T

1 paper

NM_004104.5

p.S2020_S2021del1

c.6060_6062delGAG

1 paper

NM_004104.5

p.S2039F

c.6116C>T

2 papers

NM_004104.5

p.A2040S

c.6118G>T

1 paper

NM_004104.5

p.R2048H

c.6143G>A

2 papers

NM_004104.5

p.V2005A

c.6014T>C

1 paper

NM_004104.5

p.V1991I

c.5971G>A

1 paper

NM_004104.5

p.I2068V

c.6202A>G

1 paper

NM_004104.5

p.L2069V

c.6205T>G

1 paper

NM_004104.5

p.T2072A

c.6214A>G

1 paper

NM_004104.5

p.D2077N

c.6229G>A

1 paper

NM_004104.5

p.T2078M

c.6233C>T