Varaico: Literature-Extracted Genetic Variants

Gene:SRP68
Variant:p.D253N

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
2 papers
NM_014230.4
p.D253N
c.757G>A
Surrounding Variants
1 paper
NM_014230.4
p.M263R
c.788T>G
1 paper
NM_014230.4
p.E271E
c.813G>A
1 paper
NM_014230.4
p.L274_A275del1
c.822_824delGCC
1 paper
NM_014230.4
p.I244I
c.732C>T
1 paper
NM_014230.4
p.F225C
c.674T>G
1 paper
NM_014230.4
p.L197P
c.590T>C
1 paper
NM_014230.4
p.A188T
c.562G>A
1 paper
NM_014230.4
p.A291T
c.871G>A
1 paper
NM_014230.4
p.I312_F313del1
c.936_938delAAA
1 paper
NM_014230.4
p.I312_F313del2
c.934_938del6
1 paper
NM_014230.4
p.Q326R
c.977A>G
1 paper
NM_014230.4
p.V178G
c.533T>G
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