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

1 paper

NM_002911.4

p.Y702delFs

c.2105_2106delAC

Surrounding Variants

1 paper

NM_002911.4

p.P706H

c.2117C>A

1 paper

NM_002911.4

p.G692D

c.2075G>A

1 paper

NM_002911.4

p.N714delFs

c.2142delC

1 paper

NM_002911.4

p.V689E

c.2066T>A

1 paper

NM_002911.4

p.L688L

c.2062C>T

1 paper

NM_002911.4

p.R687C

c.2059C>T

1 paper

NM_002911.4

p.S683L

c.2048C>T

1 paper

NM_002911.4

p.T726I

c.2177C>T

1 paper

NM_002911.4

p.A676A

c.2028C>T

1 paper

NM_002911.4

p.C672insFs

c.2015_2016insC

1 paper

NM_002911.4

p.C672delFs

c.2016delC

1 paper

NM_002911.4

p.K674_K677del4

c.2020_2030del12