Varaico: Literature-Extracted Genetic Variants

Gene:SNU13
Variant:p.Q117delFs

SNU13

36 papers

RefSeq Summary

Originally named because of its sequence similarity to the Saccharomyces cerevisiae NHP2 (non-histone protein 2), this protein appears to be a highly conserved nuclear protein that is a component of t...

Pfam Domains

Ribosomal_L7Aeaa 20–114UCSCRibosomal protein L7Ae/L30e/S12e/Gadd45 family

Gene Aliases

HGNC Name

small nuclear ribonucleoprotein 13

HGNC Previous Symbols

SSFA1; NHP2L1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001003796.2
p.Q117delFs
c.349delG
Surrounding Variants
1 paper
NM_001003796.2
p.R125S
c.375G>T
1 paper
NM_001003796.2
p.R125S
c.375G>C
1 paper
NM_001003796.2
p.R84C
c.250C>T
1 paper
NM_001003796.2
p.V81L
c.241G>T
1 paper
NM_001003796.2
p.V81L
c.241G>C
2 papers
NM_001003796.2
p.E64_I65insT
c.190_194ins3
1 paper
NM_001003796.2
p.A60P
c.178G>C
1 paper
NM_001003796.2
p.T43_K44insT
c.127_131ins3
1 paper
NM_001003796.2
p.A42T
c.124G>A
1 paper
NM_001003796.2
p.N40K
c.120T>G
1 paper
NM_001003796.2
p.N40S
c.119A>G
1 paper
NM_001003796.2
p.R36W
c.106C>T
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