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.D1093N

c.3277G>A

Surrounding Variants

1 paper

NM_001283009.2

p.D1093E

c.3279C>A

1 paper

NM_001283009.2

p.L1092P

c.3275T>C

1 paper

NM_001283009.2

p.A1097delFs

c.3289delG

1 paper

NM_001283009.2

p.A1097fs

c.3289_3290fs

2 papers

NM_001283009.2

p.D1091del1

c.3271_3272delGAC

1 paper

NM_001283009.2

p.K1087_Q1088insFs

c.3261_3262insC

1 paper

NM_001283009.2

p.K1087E

c.3259A>G

2 papers

NM_001283009.2

p.Y1086C

c.3257A>G

1 paper

NM_001283009.2

p.P1107R

c.3320C>G

2 papers

NM_001283009.2

p.P1107L

c.3320C>T

1 paper

NM_001283009.2

p.F1110L

c.3328T>C

1 paper

NM_001283009.2

p.F1110L

c.3330C>A