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

3 papers

NM_006947.4

p.K557K

c.1671A>G

Surrounding Variants

1 paper

NM_006947.4

p.K557R

c.1670A>G

1 paper

NM_006947.4

p.K544R

c.1631A>G

1 paper

NM_006947.4

p.S541I

c.1622G>T

1 paper

NM_006947.4

p.V537insFs

c.1610_1611insAT

1 paper

NM_006947.4

p.S508L

c.1523C>T

1 paper

NM_006947.4

p.L502F

c.1504C>T

1 paper

NM_006947.4

p.A501Splc

c.1503-1G>A

1 paper

NM_006947.4

p.A501Splc

c.1503-11T>G

1 paper

NM_006947.4

p.A501Splc

c.1502+1G>A

1 paper

NM_006947.4

p.A499insFs

c.1496dupC

1 paper

NM_006947.4

p.P496P

c.1488A>G

1 paper

NM_006947.4

p.S492insFs

c.1474dupT