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

11 papers

NM_001283009.2

p.Q1042H

c.3126A>T

Surrounding Variants

12 papers

NM_001283009.2

p.Q1042H

c.3126A>C

1 paper

NM_001283009.2

p.Q1042_Q1044delins

c.3126_3130delinsCCCAG

1 paper

NM_001283009.2

p.Q1044E

c.3130C>G

1 paper

NM_001283009.2

p.P1039T

c.3115C>A

4 papers

NM_001283009.2

p.A1059T

c.3175G>A

4 papers

NM_001283009.2

p.A1062T

c.3184G>A

1 paper

NM_001283009.2

p.R1068C

c.3202C>T

1 paper

NM_001283009.2

p.G1072G

c.3216G>A

1 paper

NM_001283009.2

p.A1074T

c.3220G>A

1 paper

NM_001283009.2

p.A1074delFs

c.3222delG

1 paper

NM_001283009.2

p.G1075fs

c.3223_3224fs

2 papers

NM_001283009.2

p.Y1086C

c.3257A>G