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.G59*

c.175G>T

Surrounding Variants

1 paper

NM_006947.4

p.K62*

c.184A>T

1 paper

NM_006947.4

p.A64V

c.191C>T

1 paper

NM_006947.4

p.V53A

c.158T>C

1 paper

NM_006947.4

p.V53I

c.157G>A

1 paper

NM_006947.4

p.L65M

c.193T>A

1 paper

NM_006947.4

p.V52_L55del4

c.154_164del12

1 paper

NM_006947.4

p.I68F

c.202A>T

1 paper

NM_006947.4

p.I68M

c.204C>G

1 paper

NM_006947.4

p.L48R

c.143T>G

1 paper

NM_006947.4

p.L48L

c.142C>T

1 paper

NM_006947.4

p.A47G

c.140C>G

1 paper

NM_006947.4

p.T72_N77delFs

c.216_229del14