Varaico: Literature-Extracted Genetic Variants

Gene:SLC28A1
Variant:p.S546A

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.S546A
c.1636T>G
Surrounding Variants
1 paper
NM_004213.5
p.S546T
c.1636T>A
9 papers
NM_004213.5
p.S546P
c.1636T>C
1 paper
NM_004213.5
p.S546C
c.1637C>G
1 paper
NM_004213.5
p.S546F
c.1637C>T
1 paper
NM_004213.5
p.S546del1
c.1636_1637delTCC
1 paper
NM_004213.5
p.R561Q
c.1682G>A
1 paper
NM_004213.5
p.A572A
c.1716G>A
1 paper
NM_004213.5
p.V582A
c.1745T>C
1 paper
NM_004213.5
p.S602C
c.1805C>G
1 paper
NM_004213.5
p.N605T
c.1814A>C
1 paper
NM_004213.5
p.T607T
c.1821C>T
1 paper
NM_004213.5
p.N627S
c.1880A>G
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