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

1–12 of 248 variants

10 papers

NM_002911.4

p.C126S

c.376T>A

10 papers

NM_002911.4

p.C126S

c.377G>C

7 papers

NM_002911.4

p.G495R

c.1483G>C

7 papers

NM_002911.4

p.G497E

c.1490G>A

3 papers

NM_002911.4

p.Q475_V476Splc

c.1425+32C>T

3 papers

NM_002911.4

p.Q475_V476Splc

c.1426-25C>T

3 papers

NM_002911.4

p.D662N

c.1984G>A

3 papers

NM_002911.4

p.S1096A

c.3286T>G

2 papers

NM_002911.4

p.S10T

c.28T>A

2 papers

NM_002911.4

p.T28A

c.82A>G

2 papers

NM_002911.4

p.D37N

c.109G>A

2 papers

NM_002911.4

p.Q98Q

c.294G>A