Varaico: Literature-Extracted Genetic Variants

Gene:SLC28A1
Variant:p.N409S

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
Selected Variant
1 paper
NM_004213.5
p.N409S
c.1226A>G
Surrounding Variants
1 paper
NM_004213.5
p.E412Q
c.1234G>C
2 papers
NM_004213.5
p.A418_A419insTTG
c.1252_1256ins9
1 paper
NM_004213.5
p.A429T
c.1285G>A
1 paper
NM_004213.5
p.S447F
c.1340C>T
1 paper
NM_004213.5
p.L449fs
c.1345_1346fs
1 paper
NM_004213.5
p.L449delFs
c.1347delG
1 paper
NM_004213.5
p.Q461_L462Splc
c.1383+4C>T
1 paper
NM_004213.5
p.R469R
c.1405C>A
2 papers
NM_004213.5
p.G476A
c.1427G>C
1 paper
NM_004213.5
p.A478V
c.1433C>T
1 paper
NM_004213.5
p.D503N
c.1507G>A
9 papers
NM_004213.5
p.R510C
c.1528C>T
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