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

1–12 of 167 variants

9 papers

NM_006947.4

p.R207H

c.620G>A

6 papers

NM_006947.4

p.T355delFs

c.1064_1065delCA

5 papers

NM_006947.4

p.T355fs

c.1063_1064fs

3 papers

NM_006947.4

p.M1I

c.3G>A

3 papers

NM_006947.4

p.G7E

c.20G>A

3 papers

NM_006947.4

p.E452Q

c.1354G>C

3 papers

NM_006947.4

p.K557K

c.1671A>G

2 papers

NM_006947.4

p.M1I

c.3G>C

2 papers

NM_006947.4

p.M1I

c.3G>T

2 papers

NM_006947.4

p.I37Splc

c.110-1G>A

2 papers

NM_006947.4

p.D44E

c.132C>A

2 papers

NM_006947.4

p.D44E

c.132C>G