Varaico: Literature-Extracted Genetic Variants

Gene:SNRNP70
Variant:p.R46P

SNRNP70

81 papers

Pfam Domains

U1snRNP70_Naa 3–94UCSCU1 small nuclear ribonucleoprotein of 70kDa MW N terminal
RRM_1aa 105–175UCSCRNA recognition motif

Gene Aliases

HGNC Name

small nuclear ribonucleoprotein U1 subunit 70

HGNC Previous Symbols

RNPU1Z; RPU1; SNRP70

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003089.6
p.R46P
c.137G>C
Surrounding Variants
1 paper
NM_003089.6
p.F48I
c.142T>A
1 paper
NM_003089.6
p.F48F
c.144T>C
2 papers
NM_003089.6
p.I41M
c.123T>G
1 paper
NM_003089.6
p.G40V
c.119G>T
1 paper
NM_003089.6
p.C39S
c.116G>C
1 paper
NM_003089.6
p.C39S
c.115T>A
1 paper
NM_003089.6
p.P24L
c.71C>T
1 paper
NM_003089.6
p.Y21C
c.62A>G
2 papers
NM_003089.6
p.I19M
c.57T>G
1 paper
NM_003089.6
p.P15S
c.43C>T
1 paper
NM_003089.6
p.L10M
c.28C>A
1 paper
NM_003089.6
p.L10L
c.28C>T
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