Varaico: Literature-Extracted Genetic Variants

Gene:SNRNP27
Variant:p.E35V

SNRNP27

35 papers

RefSeq Summary

This gene encodes a serine/arginine-rich (SR) protein. SR proteins play important roles in pre-mRNA splicing by facilitating the recognition and selection of splice sites. The encoded protein associat...

Pfam Domains

SNRNP27aa 98–154UCSCU4/U6.U5 small nuclear ribonucleoproteins

Gene Aliases

HGNC Name

small nuclear ribonucleoprotein U4/U6.U5 subunit 27

HGNC Alias Symbols

RY1; U4/U6.U5-27K

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006857.3
p.E35V
c.104A>T
Surrounding Variants
1 paper
NM_006857.3
p.R36G
c.106A>G
1 paper
NM_006857.3
p.R30M
c.89G>T
1 paper
NM_006857.3
p.R44*
c.130C>T
1 paper
NM_006857.3
p.P46P
c.138G>A
1 paper
NM_006857.3
p.R17insFs
c.50dupG
1 paper
NM_006857.3
p.R7C
c.19C>T
1 paper
NM_006857.3
p.G2S
c.4G>A
1 paper
NM_006857.3
p.P62S
c.184C>T
1 paper
NM_006857.3
p.L67M
c.199C>A
1 paper
NM_006857.3
p.D72D
c.216T>C
1 paper
NM_006857.3
p.I88S
c.263T>G
1 paper
NM_006857.3
p.E99K
c.295G>A
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