Varaico: Literature-Extracted Genetic Variants

Gene:SLC29A4
Variant:p.G317S

SLC29A4

69 papers

RefSeq Summary

This gene encodes a member of the SLC29A/ENT transporter protein family. The encoded membrane protein catalyzes the reuptake of monoamines into presynaptic neurons, thus determining the intensity and ...

Pfam Domains

Nucleoside_tranaa 170–506UCSCNucleoside transporter

Gene Aliases

HGNC Name

solute carrier family 29 member 4

HGNC Alias Symbols

FLJ34923; ENT4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_153247.4
p.G317S
c.949G>A
Surrounding Variants
1 paper
NM_153247.4
p.G319S
c.955G>A
3 papers
NM_153247.4
p.D326E
c.978T>A
3 papers
NM_153247.4
p.D326E
c.978T>G
1 paper
NM_153247.4
p.R329R
c.985C>A
1 paper
NM_153247.4
p.A302D
c.905C>A
1 paper
NM_153247.4
p.L301Q
c.902T>A
1 paper
NM_153247.4
p.R334C
c.1000C>T
1 paper
NM_153247.4
p.A341V
c.1022C>T
1 paper
NM_153247.4
p.F294_E295Splc
c.883-144A>G
1 paper
NM_153247.4
p.T367K
c.1100C>A
1 paper
NM_153247.4
p.E375Q
c.1123G>C
1 paper
NM_153247.4
p.E375A
c.1124A>C
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