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

1–12 of 468 variants

11 papers

NM_004104.5

p.V1483I

c.4447G>A

8 papers

NM_004104.5

p.G255R

c.763G>C

7 papers

NM_004104.5

p.G281R

c.841G>C

6 papers

NM_004104.5

p.E719K

c.2155G>A

5 papers

NM_004104.5

p.R1819W

c.5455C>T

4 papers

NM_004104.5

p.R443Q

c.1328G>A

4 papers

NM_004104.5

p.S581A

c.1741T>G

4 papers

NM_004104.5

p.P1779L

c.5336C>T

4 papers

NM_004104.5

p.R1824W

c.5470C>T

4 papers

NM_004104.5

p.V1937I

c.5809G>A

4 papers

NM_004104.5

p.A2398S

c.7192G>T

3 papers

NM_004104.5

p.C161S

c.481T>A