Varaico: Literature-Extracted Genetic Variants

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

1–12 of 53 variants

4 papers

NM_003139.4

p.K170delFs

c.509delT

3 papers

NM_003139.4

p.K170fs

c.508_509fs

2 papers

NM_003139.4

p.Y78C

c.233A>G

1 paper

NM_003139.4

p.L2H

c.5T>A

1 paper

NM_003139.4

p.G42E

c.125G>A

1 paper

NM_003139.4

p.G43S

c.127G>A

1 paper

NM_003139.4

p.T48A

c.142A>G

1 paper

NM_003139.4

p.V67_V68Splc

c.201+1G>C

1 paper

NM_003139.4

p.D85D

c.255C>T

1 paper

NM_003139.4

p.R95H

c.284G>A

1 paper

NM_003139.4

p.K165N

c.495G>T

1 paper

NM_003139.4

p.K165N

c.495G>C