Varaico: Literature-Extracted Genetic Variants

Gene:SRPRA
Variant:p.K170delFs

SRPRA

49 papers

RefSeq Summary

The gene encodes a subunit of the endoplasmic reticulum signal recognition particle receptor that, in conjunction with the signal recognition particle, is involved in the targeting and translocation o...

Pfam Domains

SRP-alpha_Naa 27–301UCSCSignal recognition particle, alpha subunit, N-terminal
SRP54_Naa 317–389UCSCSRP54-type protein, helical bundle domain
SRP54aa 418–637UCSCSRP54-type protein, GTPase domain

Gene Aliases

HGNC Name

SRP receptor subunit alpha

HGNC Previous Symbol

SRPR

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_003139.4
p.K170delFs
c.509delT
Surrounding Variants
3 papers
NM_003139.4
p.K170fs
c.508_509fs
1 paper
NM_003139.4
p.K170fs
c.508_509fs
1 paper
NM_003139.4
p.G171fs
c.511_512fs
1 paper
NM_003139.4
p.K173*
c.517A>T
1 paper
NM_003139.4
p.S167G
c.499A>G
1 paper
NM_003139.4
p.K165N
c.495G>T
1 paper
NM_003139.4
p.K165N
c.495G>C
1 paper
NM_003139.4
p.G176R
c.526G>C
1 paper
NM_003139.4
p.G176R
c.526G>C
1 paper
NM_003139.4
p.G179D
c.536G>A
1 paper
NM_003139.4
p.A182D
c.545C>A
1 paper
NM_003139.4
p.S184G
c.550A>G
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