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

9 papers

NM_006947.4

p.R207H

c.620G>A

Surrounding Variants

1 paper

NM_006947.4

p.L205F

c.613C>T

1 paper

NM_006947.4

p.L210F

c.630A>C

1 paper

NM_006947.4

p.L210F

c.630A>T

1 paper

NM_006947.4

p.G216_H229del14

c.646_686del42

1 paper

NM_006947.4

p.E224*

c.670G>T

1 paper

NM_006947.4

p.M232_A233insAA

c.694_698ins6

1 paper

NM_006947.4

p.Y249H

c.745T>C

1 paper

NM_006947.4

p.P257R

c.770C>G

1 paper

NM_006947.4

p.D259fs

c.775_776fs

1 paper

NM_006947.4

p.D259G

c.776A>G

1 paper

NM_006947.4

p.N268T

c.803A>C

1 paper

NM_006947.4

p.N274S

c.821A>G