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

Selected Variant

1 paper

NM_003139.4

p.K314N

c.942G>C

Surrounding Variants

1 paper

NM_003139.4

p.K314N

c.942G>T

1 paper

NM_003139.4

p.T316S

c.946A>T

1 paper

NM_003139.4

p.G322D

c.965G>A

1 paper

NM_003139.4

p.L324L

c.972G>C

1 paper

NM_003139.4

p.E336K

c.1006G>A

1 paper

NM_003139.4

p.R282Q

c.845G>A

1 paper

NM_003139.4

p.K352N

c.1056G>T

1 paper

NM_003139.4

p.K352N

c.1056G>C

1 paper

NM_003139.4

p.G372G

c.1116G>T

1 paper

NM_003139.4

p.A244Fs

c.730delinsAGFs

1 paper

NM_003139.4

p.A244P

c.730G>C

1 paper

NM_003139.4

p.V381insFs

c.1142dupT