Varaico: Literature-Extracted Genetic Variants

PELO

38 papers

RefSeq Summary

This gene encodes a protein which contains a conserved nuclear localization signal. The encoded protein may have a role in spermatogenesis, cell cycle control, and in meiotic cell division. [provided ...

Pfam Domains

Pelota_Naa 1–129UCSCPelota N-terminal domain

eRF1_2aa 136–268UCSCeRF1 domain 2

eRF1_3aa 271–370UCSCeRF1 domain 3

Gene Aliases

HGNC Name

pelota mRNA surveillance and ribosome rescue factor

HGNC Previous Names

pelota (Drosophila) homolog; pelota homolog (Drosophila)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015946.5

p.N339K

c.1017T>A

Surrounding Variants

1 paper

NM_015946.5

p.N339K

c.1017T>G

2 papers

NM_015946.5

p.R331G

c.991A>G

1 paper

NM_015946.5

p.R328fs

c.982_983fs

1 paper

NM_015946.5

p.R328insFs

c.982_983insT

1 paper

NM_015946.5

p.R326_S327del1

c.977_979delGGA

1 paper

NM_015946.5

p.R326_S327del2

c.976_980del6

1 paper

NM_015946.5

p.Q355L

c.1064A>T

1 paper

NM_015946.5

p.L359V

c.1075T>G

1 paper

NM_015946.5

p.A307S

c.919G>T

1 paper

NM_015946.5

p.A305A

c.915C>T

1 paper

NM_015946.5

p.S374P

c.1120T>C

1 paper

NM_015946.5

p.Q298*

c.892C>T