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.P1527L

c.4580C>T

Surrounding Variants

1 paper

NM_004104.5

p.E1525D

c.4575G>T

1 paper

NM_004104.5

p.E1525D

c.4575G>C

1 paper

NM_004104.5

p.G1560G

c.4680C>T

1 paper

NM_004104.5

p.A1561V

c.4682C>T

1 paper

NM_004104.5

p.D1508E

c.4524C>G

1 paper

NM_004104.5

p.D1508E

c.4524C>A

1 paper

NM_004104.5

p.D1500N

c.4498G>A

1 paper

NM_004104.5

p.L1583L

c.4747C>T

11 papers

NM_004104.5

p.V1483I

c.4447G>A

1 paper

NM_004104.5

p.S1481T

c.4441T>A

1 paper

NM_004104.5

p.C1471Y

c.4412G>A

1 paper

NM_004104.5

p.S1604L

c.4811C>T