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.P491S

c.1471C>T

Surrounding Variants

1 paper

NM_004104.5

p.P491A

c.1471C>G

2 papers

NM_004104.5

p.E489K

c.1465G>A

1 paper

NM_004104.5

p.A487S

c.1459G>T

1 paper

NM_004104.5

p.V485V

c.1455G>A

1 paper

NM_004104.5

p.C496W

c.1488C>G

2 papers

NM_004104.5

p.G479V

c.1436G>T

1 paper

NM_004104.5

p.R477R

c.1431C>T

2 papers

NM_004104.5

p.R477H

c.1430G>A

1 paper

NM_004104.5

p.T463I

c.1388C>T

1 paper

NM_004104.5

p.A458V

c.1373C>T

1 paper

NM_004104.5

p.L454L

c.1362G>A

1 paper

NM_004104.5

p.L448L

c.1342C>T