Varaico: Literature-Extracted Genetic Variants

SLC27A6

80 papers

RefSeq Summary

This gene encodes a member of the fatty acid transport protein family (FATP). FATPs are involved in the uptake of long-chain fatty acids and have unique expression patterns. Alternatively spliced tran...

Pfam Domains

AMP-bindingaa 60–389UCSCAMP-binding enzyme

AMP-binding_Caa 495–571UCSCAMP-binding enzyme C-terminal domain

Gene Aliases

HGNC Name

solute carrier family 27 member 6

HGNC Alias Symbols

FATP6; VLCS-H1; FACVL2; ACSVL2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 87 variants

2 papers

NM_001017372.3

p.L19V

c.55T>G

2 papers

NM_001017372.3

p.K21_L22delFs

c.61_65del5

2 papers

NM_001017372.3

p.L61_K65del5

c.181_194del15

1 paper

NM_001017372.3

p.L3L

c.7C>T

1 paper

NM_001017372.3

p.L6insFs

c.17_18ins4

1 paper

NM_001017372.3

p.M13R

c.38T>G

1 paper

NM_001017372.3

p.V15I

c.43G>A

1 paper

NM_001017372.3

p.L16Q

c.47T>A

1 paper

NM_001017372.3

p.L16L

c.48G>T

1 paper

NM_001017372.3

p.H17_F18ins4

c.49_53ins12

1 paper

NM_001017372.3

p.L19F

c.57G>C

1 paper

NM_001017372.3

p.L19F

c.57G>T