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.V9L

c.25G>C

Surrounding Variants

1 paper

NM_006947.4

p.V9L

c.25G>T

1 paper

NM_006947.4

p.V9G

c.26T>G

1 paper

NM_006947.4

p.S10_P12delFs

c.28_34del7

1 paper

NM_006947.4

p.S10T

c.28T>A

1 paper

NM_006947.4

p.G7G

c.21G>T

3 papers

NM_006947.4

p.G7E

c.20G>A

1 paper

NM_006947.4

p.G7insFs

c.20_21insT

1 paper

NM_006947.4

p.G7fs

c.19_20fs

1 paper

NM_006947.4

p.S6_G7insFs

c.18_19insTT

1 paper

NM_006947.4

p.P12L

c.35C>T

1 paper

NM_006947.4

p.A13P

c.37G>C

1 paper

NM_006947.4

p.W15*

c.44G>A