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.T980A

c.2938A>G

Surrounding Variants

2 papers

NM_004104.5

p.T980P

c.2938A>C

1 paper

NM_004104.5

p.N978H

c.2932A>C

1 paper

NM_004104.5

p.T976P

c.2926A>C

1 paper

NM_004104.5

p.P972L

c.2915C>T

2 papers

NM_004104.5

p.D970N

c.2908G>A

1 paper

NM_004104.5

p.D1000G

c.2999A>G

1 paper

NM_004104.5

p.G1007S

c.3019G>A

1 paper

NM_004104.5

p.A1011T

c.3031G>A

1 paper

NM_004104.5

p.G950S

c.2848G>A

1 paper

NM_004104.5

p.N949Y

c.2845A>T

2 papers

NM_004104.5

p.E939K

c.2815G>A

1 paper

NM_004104.5

p.L919L

c.2757G>A