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.P1352H

c.4055C>A

Surrounding Variants

1 paper

NM_004104.5

p.R1349P

c.4046G>C

1 paper

NM_004104.5

p.V1357M

c.4069G>A

1 paper

NM_004104.5

p.R1337K

c.4010G>A

1 paper

NM_004104.5

p.S1330C

c.3988A>T

1 paper

NM_004104.5

p.L1329V

c.3985C>G

1 paper

NM_004104.5

p.A1328T

c.3982G>A

1 paper

NM_004104.5

p.Q1374_D1375Splc

c.4122+9G>A

1 paper

NM_004104.5

p.P1325L

c.3974C>T

1 paper

NM_004104.5

p.L1312F

c.3934C>T

2 papers

NM_004104.5

p.D1311N

c.3931G>A

1 paper

NM_004104.5

p.A1303V

c.3908C>T

2 papers

NM_004104.5

p.A1376A

c.4128G>A