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.E674*

c.2020G>T

Surrounding Variants

1 paper

NM_004104.5

p.K673R

c.2018A>G

1 paper

NM_004104.5

p.A672A

c.2016C>T

1 paper

NM_004104.5

p.G669C

c.2005G>T

1 paper

NM_004104.5

p.E668*

c.2002G>T

1 paper

NM_004104.5

p.A681T

c.2041G>A

1 paper

NM_004104.5

p.K700_V701Splc

c.2100+6C>T

1 paper

NM_004104.5

p.R703L

c.2108G>T

1 paper

NM_004104.5

p.P707L

c.2120C>T

1 paper

NM_004104.5

p.S709L

c.2126C>T

6 papers

NM_004104.5

p.E719K

c.2155G>A

1 paper

NM_004104.5

p.Q655_A656Splc

c.1965+68C>T

1 paper

NM_004104.5

p.R728delFs

c.2184delG