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.D1080V

c.3239A>T

Surrounding Variants

1 paper

NM_002911.4

p.D1080N

c.3238G>A

2 papers

NM_002911.4

p.E1086K

c.3256G>A

1 paper

NM_002911.4

p.S1089A

c.3265T>G

3 papers

NM_002911.4

p.S1096A

c.3286T>G

1 paper

NM_002911.4

p.T1100T

c.3300G>A

1 paper

NM_002911.4

p.Q1102Q

c.3306G>A

2 papers

NM_002911.4

p.Q1079_D1080Splc

c.3238-83C>T

2 papers

NM_002911.4

p.H1109Y

c.3325C>T

1 paper

NM_002911.4

p.G1110D

c.3329G>A

2 papers

NM_002911.4

p.S1116A

c.3346T>G

2 papers

NM_002911.4

p.Q1079_D1080Splc

c.3237+128C>T

2 papers

NM_002911.4

p.Q1079_D1080Splc

c.3237+8C>T