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.S52Y

c.155C>A

Surrounding Variants

1 paper

NM_015946.5

p.T53T

c.159G>A

1 paper

NM_015946.5

p.N59D

c.175A>G

1 paper

NM_015946.5

p.C68S

c.202T>A

1 paper

NM_015946.5

p.C68S

c.203G>C

1 paper

NM_015946.5

p.V33A

c.98T>C

1 paper

NM_015946.5

p.M26T

c.77T>C

1 paper

NM_015946.5

p.Q80R

c.239A>G

1 paper

NM_015946.5

p.P23P

c.69T>G

1 paper

NM_015946.5

p.E9K

c.25G>A

1 paper

NM_015946.5

p.E103K

c.307G>A

1 paper

NM_015946.5

p.Q109delFs

c.326_327delAG

1 paper

NM_015946.5

p.L112L

c.336G>C