Varaico: Literature-Extracted Genetic Variants

UPF2

117 papers

RefSeq Summary

This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. mRNA surveillance detects exported mRNAs with truncated ope...

Pfam Domains

MIF4Gaa 165–395UCSCMIF4G domain

MIF4Gaa 569–758UCSCMIF4G domain

MIF4Gaa 773–986UCSCMIF4G domain

Upf2aa 1071–1218UCSCUp-frameshift suppressor 2

Gene Aliases

HGNC Name

UPF2 regulator of nonsense mediated mRNA decay

HGNC Alias Symbols

RENT2; DKFZP434D222; KIAA1408; smg-3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015542.4

p.D265delFs

c.795delA

Surrounding Variants

1 paper

NM_015542.4

p.L284_S285insA

c.850_854ins3

1 paper

NM_015542.4

p.Q242E

c.724C>G

2 papers

NM_015542.4

p.N293S

c.878A>G

1 paper

NM_015542.4

p.H230Q

c.690C>G

1 paper

NM_015542.4

p.H230Q

c.690C>A

1 paper

NM_015542.4

p.L225_C226delFs

c.674_677del4

1 paper

NM_015542.4

p.V223A

c.668T>C

1 paper

NM_015542.4

p.H314delFs

c.940delG

1 paper

NM_015542.4

p.D218E

c.654T>G

1 paper

NM_015542.4

p.D218E

c.654T>A

1 paper

NM_015542.4

p.A212T

c.634G>A

1 paper

NM_015542.4

p.R325T

c.974G>C