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.A499insFs

c.1496dupC

Surrounding Variants

1 paper

NM_006947.4

p.P496P

c.1488A>G

1 paper

NM_006947.4

p.A501Splc

c.1502+1G>A

1 paper

NM_006947.4

p.S492insFs

c.1474dupT

1 paper

NM_006947.4

p.T483N

c.1448C>A

1 paper

NM_006947.4

p.I481fs

c.1441_1442fs

1 paper

NM_006947.4

p.I481_T483delFs

c.1442_1448del7

1 paper

NM_006947.4

p.W474*

c.1422G>A

1 paper

NM_006947.4

p.W474*

c.1421G>A

1 paper

NM_006947.4

p.L473M

c.1417C>A

1 paper

NM_006947.4

p.L470L

c.1410A>G

1 paper

NM_006947.4

p.K459N

c.1377A>C

1 paper

NM_006947.4

p.K459N

c.1377A>T