Varaico: Literature-Extracted Genetic Variants

RTEL1

615 papers

RefSeq Summary

This gene encodes a DNA helicase which functions in the stability, protection and elongation of telomeres and interacts with proteins in the shelterin complex known to protect telomeres during DNA rep...

Pfam Domains

DEAD_2aa 111–272UCSCDEAD_2

ARCH_RTEL1aa 274–460UCSCRTEL1 helicase, ARCH domain

Helicase_C_2aa 545–731UCSCHelicase C-terminal domain

Gene Aliases

HGNC Name

regulator of telomere elongation helicase 1

HGNC Previous Symbol

C20orf41

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001283009.2

p.A990V

c.2969C>T

Surrounding Variants

4 papers

NM_032957.5

p.R1013W

c.3037C>T

NM_001283009.2

p.R989W

c.2965C>T

2 papers

NM_001283009.2

p.P992L

c.2975C>T

1 paper

NM_001283009.2

p.Q988*

c.2962C>T

1 paper

NM_001283009.2

p.R987S

c.2961G>C

1 paper

NM_001283009.2

p.R987T

c.2960G>C

1 paper

NM_001283009.2

p.R987W

c.2959A>T

1 paper

NM_001283009.2

p.L994L

c.2980C>T

4 papers

NM_001283009.2

p.R986Q

c.2957G>A

25 papers

NM_032957.5

p.R1010*

c.3028C>T

NM_001283009.2

p.R986*

c.2956C>T

2 papers

NM_001283009.2

p.P996delFs

c.2988delC

1 paper

NM_001283009.2

p.D995D

c.2985C>T

2 papers

NM_001283009.2

p.P996H

c.2987C>A