Varaico: Literature-Extracted Genetic Variants

Gene:SLC28A1

SLC28A1

113 papers

Pfam Domains

Nucleos_tra2_Naa 183–256UCSCNa+ dependent nucleoside transporter N-terminus
Gateaa 263–364UCSCNucleoside recognition
Nucleos_tra2_Caa 269–422UCSCNa+ dependent nucleoside transporter C-terminus
Nucleos_tra2_Caa 366–588UCSCNa+ dependent nucleoside transporter C-terminus

Gene Aliases

HGNC Name

solute carrier family 28 member 1

HGNC Alias Symbol

CNT1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 100 variants
19 papers
NM_004213.5
p.V189I
c.565G>A
14 papers
NM_004213.5
p.D521N
c.1561G>A
9 papers
NM_004213.5
p.R510C
c.1528C>T
9 papers
NM_004213.5
p.S546P
c.1636T>C
8 papers
NM_004213.5
p.Q237K
c.709C>A
4 papers
NM_004213.5
p.A190S
c.568G>T
4 papers
NM_004213.5
p.L354V
c.1060C>G
3 papers
NM_004213.5
p.A230V
c.689C>T
3 papers
NM_004213.5
p.S318G
c.952A>G
3 papers
NM_004213.5
p.H339H
c.1017C>T
3 papers
NM_004213.5
p.A515T
c.1543G>A
2 papers
NM_004213.5
p.S13C
c.38C>G
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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."