Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A1

SLC7A1

132 papers

Pfam Domains

AA_permease_2aa 32–446UCSCAmino acid permease
AA_permease_Caa 558–608UCSCC-terminus of AA_permease

Gene Aliases

HGNC Name

solute carrier family 7 member 1

HGNC Previous Symbols

ERR; ATRC1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 96 variants
2 papers
NM_003045.5
p.M13R
c.38T>G
2 papers
NM_003045.5
p.I172N
c.515T>A
2 papers
NM_003045.5
p.D407N
c.1219G>A
1 paper
NM_003045.5
p.M1L
c.1A>T
1 paper
NM_003045.5
p.M1L
c.1A>C
1 paper
NM_003045.5
p.M1T
c.2T>C
1 paper
NM_003045.5
p.L7_G10delFs
c.19_28del10
1 paper
NM_003045.5
p.G10G
c.30G>A
1 paper
NM_003045.5
p.Q12E
c.34C>G
1 paper
NM_003045.5
p.Q12P
c.35A>C
1 paper
NM_003045.5
p.Q12Q
c.36G>A
1 paper
NM_003045.5
p.T26M
c.77C>T
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