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.G461D

c.1382G>A

Surrounding Variants

2 papers

NM_001283009.2

p.G461A

c.1382G>C

1 paper

NM_001283009.2

p.P460P

c.1380C>T

3 papers

NM_001283009.2

p.W456C

c.1368G>C

3 papers

NM_001283009.2

p.W456C

c.1368G>T

1 paper

NM_001283009.2

p.L467V

c.1399C>G

1 paper

NM_001283009.2

p.Q470*

c.1408C>T

1 paper

NM_001283009.2

p.K451E

c.1351A>G

1 paper

NM_032957.5

p.R497C

c.1489C>T

1 paper

NM_001283009.2

p.R473L

c.1418G>T

1 paper

NM_001283009.2

p.L477F

c.1429C>T

1 paper

NM_001283009.2

p.S479N

c.1436G>A

1 paper

NM_001283009.2

p.G480R

c.1438G>C