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.P302L

c.905C>T

Surrounding Variants

1 paper

NM_004104.5

p.D301A

c.902A>C

1 paper

NM_004104.5

p.R310L

c.929G>T

1 paper

NM_004104.5

p.A314T

c.940G>A

1 paper

NM_004104.5

p.Q317insFs

c.949_950insA

1 paper

NM_004104.5

p.P319L

c.956C>T

1 paper

NM_004104.5

p.G323R

c.967G>C

1 paper

NM_004104.5

p.G323S

c.967G>A

1 paper

NM_004104.5

p.G323D

c.968G>A

1 paper

NM_004104.5

p.S324T

c.970T>A

2 papers

NM_004104.5

p.K326R

c.977A>G

1 paper

NM_004104.5

p.K326N

c.978G>T

1 paper

NM_004104.5

p.K326N

c.978G>C