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.Q400H

c.1200G>T

Surrounding Variants

1 paper

NM_003139.4

p.Q400H

c.1200G>C

1 paper

NM_003139.4

p.R401H

c.1202G>A

1 paper

NM_003139.4

p.M410T

c.1229T>C

1 paper

NM_003139.4

p.A412A

c.1236C>T

1 paper

NM_003139.4

p.V381insFs

c.1142dupT

1 paper

NM_003139.4

p.L443F

c.1329A>T

1 paper

NM_003139.4

p.L443F

c.1329A>C

1 paper

NM_003139.4

p.S448fs

c.1342_1343fs

1 paper

NM_003139.4

p.S448_V449delFs

c.1343_1347del5

1 paper

NM_003139.4

p.Q464E

c.1390C>G

1 paper

NM_003139.4

p.R466C

c.1396C>T

1 paper

NM_003139.4

p.H476D

c.1426C>G