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.H614Y

c.1840C>T

Surrounding Variants

1 paper

NM_004104.5

p.A613T

c.1837G>A

2 papers

NM_004104.5

p.P617L

c.1850C>T

1 paper

NM_004104.5

p.I610N

c.1829T>A

1 paper

NM_004104.5

p.L601L

c.1803C>T

1 paper

NM_004104.5

p.V600G

c.1799T>G

1 paper

NM_004104.5

p.V600D

c.1799T>A

1 paper

NM_004104.5

p.S595A

c.1783T>G

1 paper

NM_004104.5

p.D591N

c.1771G>A

1 paper

NM_004104.5

p.G588S

c.1762G>A

4 papers

NM_004104.5

p.S581A

c.1741T>G

1 paper

NM_004104.5

p.S552L

c.1655C>T

1 paper

NM_004104.5

p.D542N

c.1624G>A