Varaico: Literature-Extracted Genetic Variants

Gene:RTP1
Variant:p.Q130fs

RTP1

30 papers

Pfam Domains

Zn_ribbon_3CxxCaa 87–197UCSCZinc-binding domain

Gene Aliases

HGNC Name

receptor transporter protein 1

HGNC Alias Symbols

MGC35450; Z3CXXC1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_153708.3
p.Q130fs
c.388_389fs
Surrounding Variants
2 papers
NM_153708.3
p.Q130delFs
c.390delG
1 paper
NM_153708.3
p.R126R
c.378C>T
1 paper
NM_153708.3
p.M125L
c.373A>C
1 paper
NM_153708.3
p.M125L
c.373A>T
1 paper
NM_153708.3
p.R124S
c.370C>A
1 paper
NM_153708.3
p.R139W
c.415C>T
1 paper
NM_153708.3
p.R116C
c.346C>T
1 paper
NM_153708.3
p.D115E
c.345C>A
1 paper
NM_153708.3
p.D115E
c.345C>G
1 paper
NM_153708.3
p.E147E
c.441G>A
1 paper
NM_153708.3
p.M112V
c.334A>G
1 paper
NM_153708.3
p.E148K
c.442G>A
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