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.A2420T

c.7258G>A

Surrounding Variants

1 paper

NM_004104.5

p.R2413H

c.7238G>A

2 papers

NM_004104.5

p.R2428C

c.7282C>T

1 paper

NM_004104.5

p.R2428H

c.7283G>A

4 papers

NM_004104.5

p.A2398S

c.7192G>T

1 paper

NM_004104.5

p.E2394*

c.7180G>T

1 paper

NM_004104.5

p.L2390R

c.7169T>G

1 paper

NM_004104.5

p.L2390P

c.7169T>C

1 paper

NM_004104.5

p.P2389L

c.7166C>T

2 papers

NM_004104.5

p.L2388L

c.7164G>A

1 paper

NM_004104.5

p.A2386V

c.7157C>T

1 paper

NM_004104.5

p.E2385Q

c.7153G>C

1 paper

NM_004104.5

p.N2463S

c.7388A>G