Varaico: Literature-Extracted Genetic Variants

UPF1

223 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

UPF1_Zn_bindaa 121–272UCSCRNA helicase (UPF2 interacting domain)

UPF1_1B_domaa 324–425UCSCRNA helicase UPF1, 1B domain

AAA_11aa 481–605UCSCAAA domain

AAA_11aa 579–684UCSCAAA domain

AAA_12aa 691–888UCSCAAA domain

Gene Aliases

HGNC Name

UPF1 RNA helicase and ATPase

HGNC Previous Symbol

RENT1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_002911.4

p.K116N

c.348G>C

Surrounding Variants

1 paper

NM_002911.4

p.L118F

c.352C>T

1 paper

NM_002911.4

p.L118_H121delFs

c.354_361del8

1 paper

NM_002911.4

p.Y113delFs

c.338delA

1 paper

NM_002911.4

p.H121_A122insFs

c.363_364insG

1 paper

NM_002911.4

p.E106_E107del2

c.316_320del6

1 paper

NM_002911.4

p.L100V

c.298T>G

2 papers

NM_002911.4

p.Q98Q

c.294G>A

1 paper

NM_002911.4

p.K95M

c.284A>T

1 paper

NM_002911.4

p.S92insFs

c.275_276insAA

1 paper

NM_002911.4

p.D91N

c.271G>A

1 paper

NM_002911.4

p.G82D

c.245G>A

1 paper

NM_002911.4

p.G82A

c.245G>C