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.P1202S

c.3604C>T

Surrounding Variants

3 papers

NM_001283009.2

p.E1198K

c.3592G>A

1 paper

NM_032957.5

p.G1221A

c.3662G>C

1 paper

NM_001283009.2

p.G1191A

c.3572G>C

1 paper

NM_001283009.2

p.A1213insFs

c.3638dupC

1 paper

NM_032957.5

p.P1213insFs

c.3638dupC

1 paper

NM_032957.5

p.Q1211*

c.3631C>T

1 paper

NM_001283009.2

p.Q1187fs

c.3559_3560fs

2 papers

NM_001283009.2

p.Q1187_R1188delFs

c.3559_3562del4

1 paper

NM_001283009.2

p.F1184F

c.3552C>T

1 paper

NM_001283009.2

p.S1182L

c.3545C>T

1 paper

NM_001283009.2

p.G1222E

c.3665G>A

1 paper

NM_001283009.2

p.K1176N

c.3528G>C