Varaico: Literature-Extracted Genetic Variants

SRP72

105 papers

RefSeq Summary

This gene encodes the 72 kDa subunit of the signal recognition particle (SRP), a ribonucleoprotein complex that mediates the targeting of secretory proteins to the endoplasmic reticulum (ER). The SRP ...

Pfam Domains

SRP_TPR_likeaa 30–157UCSCPutative TPR-like repeat

TPR_8aa 176–208UCSCTetratricopeptide repeat

SRP72aa 531–588UCSCSRP72 RNA-binding domain

Gene Aliases

HGNC Name

signal recognition particle 72

HGNC Previous Name

signal recognition particle 72kDa

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006947.4

p.T355fs

c.1063_1064fs

Surrounding Variants

5 papers

NM_006947.4

p.T355fs

c.1063_1064fs

1 paper

NM_006947.4

p.T355K

c.1064C>A

1 paper

NM_006947.4

p.T355del1

c.1063_1064delACA

6 papers

NM_006947.4

p.T355delFs

c.1064_1065delCA

1 paper

NM_006947.4

p.R350H

c.1049G>A

1 paper

NM_006947.4

p.Q347_L348delFs

c.1041_1044del4

1 paper

NM_006947.4

p.P340fs

c.1018_1019fs

1 paper

NM_006947.4

p.S327A

c.979T>G

1 paper

NM_006947.4

p.R324L

c.971G>T

1 paper

NM_006947.4

p.P369A

c.1105C>G

1 paper

NM_006947.4

p.N371K

c.1113T>A

1 paper

NM_006947.4

p.N371K

c.1113T>G