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.C133Y

c.398G>A

Surrounding Variants

1 paper

NM_002911.4

p.V134V

c.402G>A

2 papers

NM_002911.4

p.I128L

c.382A>T

2 papers

NM_002911.4

p.T139A

c.415A>G

1 paper

NM_002911.4

p.S140delFs

c.418_419delAG

10 papers

NM_002911.4

p.C126S

c.377G>C

10 papers

NM_002911.4

p.C126S

c.376T>A

1 paper

NM_002911.4

p.N146K

c.438C>A

1 paper

NM_002911.4

p.T151A

c.451A>G

1 paper

NM_002911.4

p.S152_G153delFs

c.456_457delTG

1 paper

NM_002911.4

p.G153D

c.458G>A

1 paper

NM_002911.4

p.H121_A122insFs

c.363_364insG

1 paper

NM_002911.4

p.L118_H121delFs

c.354_361del8