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.V976V

c.2928G>A

Surrounding Variants

1 paper

NM_002911.4

p.M979insFs

c.2935_2936insA

2 papers

NM_002911.4

p.G972G

c.2916C>T

1 paper

NM_002911.4

p.R954delFs

c.2861delG

2 papers

NM_002911.4

p.G1007Splc

c.3020-44A>G

1 paper

NM_002911.4

p.K1012_K1014del3

c.3034_3041del9

1 paper

NM_002911.4

p.N1034D

c.3100A>G

1 paper

NM_002911.4

p.N1034S

c.3101A>G

1 paper

NM_002911.4

p.L1035V

c.3103C>G

1 paper

NM_002911.4

p.I1059V

c.3175A>G

1 paper

NM_002911.4

p.S1073A

c.3217T>G

2 papers

NM_002911.4

p.S1078A

c.3232T>G

2 papers

NM_002911.4

p.Q1079_D1080Splc

c.3237+8C>T