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

2 papers

NM_006947.4

p.V45I

c.133G>A

Surrounding Variants

1 paper

NM_006947.4

p.V45L

c.133G>T

2 papers

NM_006947.4

p.D44E

c.132C>A

2 papers

NM_006947.4

p.D44E

c.132C>G

1 paper

NM_006947.4

p.D44H

c.130G>C

1 paper

NM_006947.4

p.A47G

c.140C>G

1 paper

NM_006947.4

p.L48L

c.142C>T

1 paper

NM_006947.4

p.N41K

c.123C>A

1 paper

NM_006947.4

p.N41K

c.123C>G

1 paper

NM_006947.4

p.L48R

c.143T>G

1 paper

NM_006947.4

p.I40M

c.120C>G

1 paper

NM_006947.4

p.V52_L55del4

c.154_164del12

2 papers

NM_006947.4

p.I37Splc

c.110-1G>A