Varaico: Literature-Extracted Genetic Variants

Gene:SLC36A4

SLC36A4

32 papers

RefSeq Summary

SLC36A4 belongs to the SLC36 family of amino acid transporters based on sequence similarity with other family members (e.g., SLC36A1; MIM 606561). SLC36 proteins contain about 500 amino acids and have...

Pfam Domains

Aa_transaa 57–473UCSCTransmembrane amino acid transporter protein

Gene Aliases

HGNC Name

solute carrier family 36 member 4

HGNC Alias Symbols

PAT4; FLJ38932

Papers
RefSeq ID
Protein change
DNA change
1–12 of 31 variants
1 paper
NM_152313.4
p.D19Splc
c.55+3C>A
1 paper
NM_152313.4
p.H50R
c.149A>G
1 paper
NM_152313.4
p.A135insFs
c.405dupT
1 paper
NM_152313.4
p.S139G
c.415A>G
1 paper
NM_152313.4
p.R152Splc
c.456-10C>G
1 paper
NM_152313.4
p.V181L
c.541G>C
1 paper
NM_152313.4
p.V190G
c.569T>G
1 paper
NM_152313.4
p.R210T
c.629G>C
1 paper
NM_152313.4
p.M213fs
c.637_638fs
1 paper
NM_152313.4
p.I220T
c.659T>C
1 paper
NM_152313.4
p.L232I
c.694C>A
1 paper
NM_152313.4
p.V245V
c.735C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."