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.P1121S

c.3361C>T

Surrounding Variants

1 paper

NM_004104.5

p.T1120A

c.3358A>G

1 paper

NM_004104.5

p.E1115K

c.3343G>A

2 papers

NM_004104.5

p.I1113V

c.3337A>G

1 paper

NM_004104.5

p.Q1107E

c.3319C>G

1 paper

NM_004104.5

p.P1103P

c.3309G>A

1 paper

NM_004104.5

p.S1101L

c.3302C>T

1 paper

NM_004104.5

p.A1089A

c.3267C>G

1 paper

NM_004104.5

p.V1075Splc

c.3224-18C>T

1 paper

NM_004104.5

p.Q1074*

c.3220C>T

1 paper

NM_004104.5

p.R1063_K1065del3

c.3187_3194del9

1 paper

NM_004104.5

p.K1065R

c.3194A>G

1 paper

NM_004104.5

p.T1061A

c.3181A>G