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.R1907C

c.5719C>T

Surrounding Variants

2 papers

NM_004104.5

p.A1901T

c.5701G>A

1 paper

NM_004104.5

p.T1915T

c.5745T>A

1 paper

NM_004104.5

p.I1888V

c.5662A>G

1 paper

NM_004104.5

p.L1872L

c.5616G>T

1 paper

NM_004104.5

p.V1853V

c.5559C>T

1 paper

NM_004104.5

p.A1926D

c.5777C>A

1 paper

NM_004104.5

p.F1831L

c.5493C>G

1 paper

NM_004104.5

p.F1831L

c.5493C>A

1 paper

NM_004104.5

p.F1831L

c.5491T>C

1 paper

NM_004104.5

p.R1934H

c.5801G>A

1 paper

NM_004104.5

p.T1829A

c.5485A>G

4 papers

NM_004104.5

p.V1937I

c.5809G>A