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.D865N

c.2593G>A

Surrounding Variants

1 paper

NM_004104.5

p.T879P

c.2635A>C

1 paper

NM_004104.5

p.T879T

c.2637C>T

1 paper

NM_004104.5

p.D881E

c.2643C>G

1 paper

NM_004104.5

p.D881E

c.2643C>A

1 paper

NM_004104.5

p.G882C

c.2644G>T

1 paper

NM_004104.5

p.G882D

c.2645G>A

2 papers

NM_004104.5

p.F886S

c.2657T>C

1 paper

NM_004104.5

p.P887L

c.2660C>T

1 paper

NM_004104.5

p.I894V

c.2680A>G

1 paper

NM_004104.5

p.T898M

c.2693C>T

2 papers

NM_004104.5

p.V907I

c.2719G>A

1 paper

NM_004104.5

p.E848K

c.2542G>A