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

15 papers

NM_001283009.2

p.F964L

c.2890T>C

NM_032957.5

p.F988L

c.2962T>C

Surrounding Variants

15 papers

NM_001283009.2

p.F964L

c.2892T>A

NM_032957.5

p.F988L

c.2964T>A

15 papers

NM_001283009.2

p.F964L

c.2892T>G

NM_032957.5

p.F988L

c.2964T>G

1 paper

NM_001283009.2

p.Q963*

c.2887C>T

2 papers

NM_001283010.1

p.E742Q

c.2224G>C

NM_032957.5

p.E989Q

c.2965G>C

NM_001283009.2

p.E965Q

c.2893G>C

1 paper

NM_001283009.2

p.E966delFs

c.2896delG

1 paper

NM_032957.5

p.Q986*

c.2956C>T

1 paper

NM_001283009.2

p.E966fs

c.2896_2897fs

1 paper

NM_001283009.2

p.E966D

c.2898G>C

1 paper

NM_001283009.2

p.E966D

c.2898G>T

1 paper

NM_001283009.2

p.V967_C968delFs

c.2900_2903del4

1 paper

NM_001283009.2

p.H960R

c.2879A>G

1 paper

NM_001283009.2

p.H960D

c.2878C>G