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.S286T

c.856T>A

Surrounding Variants

1 paper

NM_004104.5

p.P284R

c.851C>G

1 paper

NM_004104.5

p.Y289Y

c.867C>T

7 papers

NM_004104.5

p.G281R

c.841G>C

1 paper

NM_004104.5

p.G281R

c.841G>A

1 paper

NM_004104.5

p.G294V

c.881G>T

1 paper

NM_004104.5

p.L276*

c.827T>A

2 papers

NM_004104.5

p.R274C

c.820C>T

1 paper

NM_004104.5

p.L272R

c.815T>G

1 paper

NM_004104.5

p.V261M

c.781G>A

1 paper

NM_004104.5

p.G260Splc

c.779-5C>T

1 paper

NM_004104.5

p.D301A

c.902A>C

1 paper

NM_004104.5

p.P302L

c.905C>T