Varaico: Literature-Extracted Genetic Variants

Gene:SRP68
Variant:p.A50fs

SRP68

50 papers

RefSeq Summary

This gene encodes a subunit of the signal recognition particle (SRP). The SRP is a ribonucleoprotein complex that transports secreted and membrane proteins to the endoplasmic reticulum for processing....

Pfam Domains

SRP68aa 75–598UCSCRNA-binding signal recognition particle 68

Gene Aliases

HGNC Name

signal recognition particle 68

HGNC Previous Names

signal recognition particle 68kD; signal recognition particle 68kDa

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014230.4
p.A50fs
c.148_149fs
Surrounding Variants
1 paper
NM_014230.4
p.S48S
c.144G>C
1 paper
NM_014230.4
p.G47R
c.139G>C
1 paper
NM_014230.4
p.E42Q
c.124G>C
1 paper
NM_014230.4
p.S59G
c.175A>G
1 paper
NM_014230.4
p.E61Q
c.181G>C
1 paper
NM_014230.4
p.I62Splc
c.184+2T>C
1 paper
NM_014230.4
p.G34R
c.100G>A
1 paper
NM_014230.4
p.S27N
c.80G>A
1 paper
NM_014230.4
p.G26D
c.77G>A
1 paper
NM_014230.4
p.G23G
c.69C>A
1 paper
NM_014230.4
p.S16_G20ins1
c.46_60dup15
1 paper
NM_014230.4
p.G20G
c.60T>C
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