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

2 papers

NM_001283009.2

p.A1259delFs

c.3775_3776delGC

Surrounding Variants

2 papers

NM_001283009.2

p.A1259fs

c.3775_3776fs

1 paper

NM_016434.4

p.G1218Splc

c.3652+114C>T

NM_001283009.2

p.Q1256*

c.3766C>T

1 paper

NM_001283009.2

p.D1261E

c.3783C>A

1 paper

NM_001283009.2

p.D1261E

c.3783C>G

2 papers

NM_001283009.2

p.F1262L

c.3784T>C

1 paper

NM_001283009.2

p.F1255fs

c.3763_3764fs

2 papers

NM_001283009.2

p.F1262L

c.3786C>A

2 papers

NM_001283009.2

p.F1262L

c.3786C>G

1 paper

NM_001283009.2

p.P1254_F1255Fs

c.3762_3763delinsAFs

50 papers

NM_001283009.2

p.R1264H

c.3791G>A

1 paper

NM_001283009.2

p.V1253fs

c.3757_3758fs

1 paper

NM_001283009.2

p.V1252_V1253insFs

c.3756_3757insA