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

1–12 of 776 variants

50 papers

NM_001283009.2

p.R1264H

c.3791G>A

30 papers

NM_001283009.2

p.R974*

c.2920C>T

22 papers

NM_001283009.2

p.R986*

c.2956C>T

19 papers

NM_001283009.2

p.R957W

c.2869C>T

16 papers

NM_001283009.2

p.M492I

c.1476G>T

15 papers

NM_001283009.2

p.M492I

c.1476G>A

15 papers

NM_001283009.2

p.M492I

c.1476G>C

14 papers

NM_001283009.2

p.F964L

c.2890T>C

14 papers

NM_001283009.2

p.F964L

c.2892T>A

14 papers

NM_001283009.2

p.F964L

c.2892T>G

13 papers

NM_001283009.2

p.C1244R

c.3730T>C

12 papers

NM_001283009.2

p.Q1042H

c.3126A>C