Varaico: Literature-Extracted Genetic Variants

Gene:RUSC1
Variant:p.S340N

RUSC1

55 papers

Pfam Domains

RUNaa 530–664UCSCRUN domain
SH3_9aa 851–899UCSCVariant SH3 domain

Gene Aliases

HGNC Name

RUN and SH3 domain containing 1

HGNC Alias Symbol

NESCA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001105203.2
p.S340N
c.1019G>A
Surrounding Variants
1 paper
NM_001105203.2
p.D341Y
c.1021G>T
1 paper
NM_001105203.2
p.I344L
c.1030A>C
1 paper
NM_001105203.2
p.I344L
c.1030A>T
1 paper
NM_001105203.2
p.S347*
c.1040C>A
1 paper
NM_001105203.2
p.P348S
c.1042C>T
1 paper
NM_001105203.2
p.L352fs
c.1054_1055fs
1 paper
NM_001105203.2
p.L352insFs
c.1056dupC
2 papers
NM_001105203.2
p.P354S
c.1060C>T
1 paper
NM_001105203.2
p.G326S
c.976G>A
1 paper
NM_001105203.2
p.K324Q
c.970A>C
1 paper
NM_001105203.2
p.S362W
c.1085C>G
1 paper
NM_001105203.2
p.S315C
c.944C>G
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