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.T1736M

c.5207C>T

Surrounding Variants

1 paper

NM_004104.5

p.E1729Q

c.5185G>C

1 paper

NM_004104.5

p.A1721T

c.5161G>A

1 paper

NM_004104.5

p.F1712S

c.5135T>C

2 papers

NM_004104.5

p.R1705W

c.5113C>T

1 paper

NM_004104.5

p.E1703D

c.5109G>T

1 paper

NM_004104.5

p.E1703D

c.5109G>C

1 paper

NM_004104.5

p.S1756S

c.5268C>T

1 paper

NM_004104.5

p.V1757V

c.5271G>A

1 paper

NM_004104.5

p.R1694H

c.5081G>A

1 paper

NM_004104.5

p.R1694C

c.5080C>T

1 paper

NM_004104.5

p.A1688T

c.5062G>A

1 paper

NM_004104.5

p.I1685I

c.5055C>T