Varaico: Literature-Extracted Genetic Variants

Gene:SLC3A1
Variant:p.Q366H

SLC3A1

474 papers

RefSeq Summary

This gene encodes a type II membrane glycoprotein which is one of the components of the renal amino acid transporter which transports neutral and basic amino acids in the renal tubule and intestinal t...

Pfam Domains

Alpha-amylaseaa 125–568UCSCAlpha amylase, catalytic domain

Gene Aliases

HGNC Name

solute carrier family 3 member 1

HGNC Alias Symbols

CSNU1; D2H; RBAT; ATR1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000341.4
p.Q366H
c.1098G>C
Surrounding Variants
1 paper
NM_000341.4
p.Q366H
c.1098G>T
1 paper
NM_000341.4
p.T367insFs
c.1099_1100insT
3 papers
NM_000341.4
p.Q366R
c.1097A>G
1 paper
NM_000341.4
p.T367A
c.1099A>G
1 paper
NM_000341.4
p.M368V
c.1102A>G
10 papers
NM_000341.4
p.R365Q
c.1094G>A
6 papers
NM_000341.4
p.R365P
c.1094G>C
41 papers
NM_000341.4
p.R365L
c.1094G>T
4 papers
NM_000341.4
p.R365_T367del0
c.1095_1100del6
61 papers
NM_000341.4
p.R365W
c.1093C>T
1 paper
NM_000341.4
p.F364L
c.1092C>A
1 paper
NM_000341.4
p.F364L
c.1092C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."