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

7 papers

NM_002911.4

p.G495R

c.1483G>C

Surrounding Variants

1 paper

NM_002911.4

p.T496S

c.1486A>T

1 paper

NM_002911.4

p.G497R

c.1489G>A

7 papers

NM_002911.4

p.G497E

c.1490G>A

2 papers

NM_002911.4

p.K498Q

c.1492A>C

1 paper

NM_002911.4

p.T499K

c.1496C>A

1 paper

NM_002911.4

p.T499M

c.1496C>T

2 papers

NM_002911.4

p.S488I

c.1463G>T

1 paper

NM_002911.4

p.Y507C

c.1520A>G

1 paper

NM_002911.4

p.R511W

c.1531C>T

1 paper

NM_002911.4

p.V479insFs

c.1435dupG

1 paper

NM_002911.4

p.A478insFs

c.1432_1433insT

2 papers

NM_002911.4

p.V476I

c.1426G>A