Varaico: Literature-Extracted Genetic Variants

Gene:RUSC1
Variant:p.R400P

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
2 papers
NM_001105203.2
p.R400P
c.1199G>C
Surrounding Variants
1 paper
NM_001105203.2
p.P419S
c.1255C>T
1 paper
NM_001105203.2
p.F371L
c.1113C>A
1 paper
NM_001105203.2
p.F371L
c.1113C>G
1 paper
NM_001105203.2
p.F371L
c.1111T>C
1 paper
NM_001105203.2
p.A430A
c.1290T>C
1 paper
NM_001105203.2
p.E437K
c.1309G>A
1 paper
NM_001105203.2
p.S362W
c.1085C>G
2 papers
NM_001105203.2
p.P354S
c.1060C>T
1 paper
NM_001105203.2
p.Q448*
c.1342C>T
1 paper
NM_001105203.2
p.L352insFs
c.1056dupC
1 paper
NM_001105203.2
p.L352fs
c.1054_1055fs
1 paper
NM_001105203.2
p.P348S
c.1042C>T
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