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.F393L

c.1179T>A

Surrounding Variants

1 paper

NM_004104.5

p.F393L

c.1179T>G

1 paper

NM_004104.5

p.F393L

c.1177T>C

1 paper

NM_004104.5

p.S392F

c.1175C>T

1 paper

NM_004104.5

p.I390V

c.1168A>G

1 paper

NM_004104.5

p.R384_N387del0

c.1151_1159del9

1 paper

NM_004104.5

p.V383L

c.1147G>C

1 paper

NM_004104.5

p.P382P

c.1146C>A

1 paper

NM_004104.5

p.P382S

c.1144C>T

1 paper

NM_004104.5

p.Q379L

c.1136A>T

1 paper

NM_004104.5

p.P410L

c.1229C>T

1 paper

NM_004104.5

p.P410P

c.1230G>C

1 paper

NM_004104.5

p.V376G

c.1127T>G