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.D37N

c.109G>A

Surrounding Variants

1 paper

NM_002911.4

p.T36delFs

c.106_107delAC

1 paper

NM_002911.4

p.E34_P47delFs

c.102_139del38

1 paper

NM_002911.4

p.E32G

c.95A>G

2 papers

NM_002911.4

p.T28A

c.82A>G

1 paper

NM_002911.4

p.D27N

c.79G>A

1 paper

NM_002911.4

p.T14S

c.41C>G

1 paper

NM_002911.4

p.G61D

c.182G>A

1 paper

NM_002911.4

p.P62L

c.185C>T

1 paper

NM_002911.4

p.S10S

c.30G>C

2 papers

NM_002911.4

p.S10T

c.28T>A

1 paper

NM_002911.4

p.G64V

c.191G>T

1 paper

NM_002911.4

p.A67V

c.200C>T