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.G1793R

c.5377G>A

Surrounding Variants

1 paper

NM_004104.5

p.G1793R

c.5377G>C

1 paper

NM_004104.5

p.V1794F

c.5380G>T

1 paper

NM_004104.5

p.V1789A

c.5366T>C

1 paper

NM_004104.5

p.I1784V

c.5350A>G

1 paper

NM_004104.5

p.S1804R

c.5410A>C

1 paper

NM_004104.5

p.S1804R

c.5412T>G

1 paper

NM_004104.5

p.S1804R

c.5412T>A

2 papers

NM_004104.5

p.D1806G

c.5417A>G

1 paper

NM_004104.5

p.V1810L

c.5428G>T

1 paper

NM_004104.5

p.V1810L

c.5428G>C

1 paper

NM_004104.5

p.V1810G

c.5429T>G

1 paper

NM_004104.5

p.G1817S

c.5449G>A