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.G975S

c.2923G>A

Surrounding Variants

1 paper

NM_001283009.2

p.G975A

c.2924G>C

34 papers

NM_032957.5

p.R998*

c.2992C>T

NM_001283009.2

p.R974*

c.2920C>T

2 papers

NM_001283009.2

p.G973A

c.2918G>C

1 paper

NM_001283009.2

p.G973*

c.2917G>T

1 paper

NM_001283009.2

p.T972I

c.2915C>T

1 paper

NM_001283009.2

p.Y978H

c.2932T>C

2 papers

NM_001283009.2

p.R979W

c.2935C>T

1 paper

NM_001283009.2

p.R979Q

c.2936G>A

1 paper

NM_001283009.2

p.C968Y

c.2903G>A

3 papers

NM_001283009.2

p.C968S

c.2903G>C

1 paper

NM_001283009.2

p.H982_S983delFs

c.2946_2947delCA

2 papers

NM_001283009.2

p.C968S

c.2902T>A