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

16 papers

NM_032957.5

p.M516I

c.1548G>C

NM_001283009.2

p.M492I

c.1476G>C

Surrounding Variants

16 papers

NM_032957.5

p.M516I

c.1548G>A

NM_001283009.2

p.M492I

c.1476G>A

17 papers

NM_032957.5

p.M516I

c.1548G>T

NM_001283009.2

p.M492I

c.1476G>T

3 papers

NM_001283009.2

p.M492K

c.1475T>A

2 papers

NM_001283009.2

p.M492V

c.1474A>G

1 paper

NM_001283009.2

p.E491K

c.1471G>A

1 paper

NM_001283009.2

p.I494M

c.1482C>G

1 paper

NM_032957.5

p.I518Splc

c.1553+5G>A

1 paper

NM_001283009.2

p.S487S

c.1461C>T

1 paper

NM_001283009.2

p.S487C

c.1460C>G

7 papers

NM_001283009.2

p.P484L

c.1451C>T

1 paper

NM_001283009.2

p.G480R

c.1438G>C

1 paper

NM_001283009.2

p.S479N

c.1436G>A