Varaico: Literature-Extracted Genetic Variants

Gene:SH3TC1
Variant:p.R719H

SH3TC1

118 papers

Pfam Domains

SH3_1aa 311–358UCSCSH3 domain
SH3_1aa 311–358UCSCSH3 domain

Gene Aliases

HGNC Name

SH3 domain and tetratricopeptide repeats 1

HGNC Alias Symbol

FLJ20356

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_018986.5
p.R719H
c.2156G>A
Surrounding Variants
1 paper
NM_018986.5
p.W705L
c.2114G>T
1 paper
NM_018986.5
p.S734P
c.2200T>C
1 paper
NM_018986.5
p.P701L
c.2102C>T
1 paper
NM_018986.5
p.P686S
c.2056C>T
1 paper
NM_018986.5
p.P756L
c.2267C>T
1 paper
NM_018986.5
p.E682K
c.2044G>A
1 paper
NM_018986.5
p.S760N
c.2279G>A
3 papers
NM_018986.5
p.P762S
c.2284C>T
1 paper
NM_018986.5
p.V676M
c.2026G>A
1 paper
NM_018986.5
p.Q764fs
c.2290_2291fs
1 paper
NM_018986.5
p.Q764insFs
c.2291_2292insG
1 paper
NM_018986.5
p.Q771E
c.2311C>G
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