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.C1242S

c.3725G>C

Surrounding Variants

2 papers

NM_001283009.2

p.C1242Y

c.3725G>A

1 paper

NM_001283009.2

p.C1242delFs

c.3724_3725delTG

13 papers

NM_001283009.2

p.C1244R

c.3730T>C

1 paper

NM_001283009.2

p.C1244fs

c.3730_3731fs

1 paper

NM_001283009.2

p.S1239delFs

c.3715_3716delTC

1 paper

NM_001283009.2

p.D1251_V1252insFs

c.3753_3754insTT

1 paper

NM_001283009.2

p.V1252fs

c.3754_3755fs

1 paper

NM_001283009.2

p.V1252_V1253insFs

c.3756_3757insA

1 paper

NM_001283009.2

p.V1253fs

c.3757_3758fs

1 paper

NM_001283009.2

p.T1231M

c.3692C>T

1 paper

NM_001283009.2

p.P1254_F1255Fs

c.3762_3763delinsAFs

1 paper

NM_001283009.2

p.F1255fs

c.3763_3764fs