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.Q475_V476Splc

c.1425+31G>A

Surrounding Variants

3 papers

NM_002911.4

p.Q475_V476Splc

c.1425+32C>T

2 papers

NM_002911.4

p.Q475_V476Splc

c.1425+21G>A

2 papers

NM_002911.4

p.Q475_V476Splc

c.1426-40C>T

2 papers

NM_002911.4

p.Q475_V476Splc

c.1426-34C>T

2 papers

NM_002911.4

p.Q475_V476Splc

c.1425+7G>A

2 papers

NM_002911.4

p.Q475_V476Splc

c.1426-26G>A

3 papers

NM_002911.4

p.Q475_V476Splc

c.1426-25C>T

2 papers

NM_002911.4

p.Q475_V476Splc

c.1426-24C>A

2 papers

NM_002911.4

p.Q475_V476Splc

c.1426-22C>T

1 paper

NM_002911.4

p.Q475*

c.1423C>T

2 papers

NM_002911.4

p.Q475_V476Splc

c.1426-17G>A

2 papers

NM_002911.4

p.Q475_V476Splc

c.1426-13G>A