Varaico: Literature-Extracted Genetic Variants

RAD50

1,231 papers

RefSeq Summary

The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Rad50, a protein involved in DNA double-strand break repair. This protein forms a complex with MRE11 and NBS1. The protei...

Pfam Domains

AAA_23aa 6–235UCSCAAA domain

Rad50_zn_hookaa 659–712UCSCRad50 zinc hook motif

SbcC_Walker_Baa 1173–1251UCSCSbcC/RAD50-like, Walker B motif

Gene Aliases

HGNC Name

RAD50 double strand break repair protein

HGNC Alias Symbols

hRad50; RAD50-2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

6 papers

NM_005732.4

p.E676*

c.2026G>T

Surrounding Variants

1 paper

NM_005732.4

p.E676K

c.2026G>A

1 paper

NM_005732.4

p.E676Q

c.2026G>C

2 papers

NM_005732.4

p.D675D

c.2025C>T

1 paper

NM_005732.4

p.D675G

c.2024A>G

1 paper

NM_005732.4

p.D675N

c.2023G>A

1 paper

NM_005732.4

p.D675fs

c.2023_2024fs

1 paper

NM_005732.4

p.T674_D675ins16

c.2020_2024ins48

1 paper

NM_005732.4

p.T674S

c.2020A>T

1 paper

NM_005732.4

p.Q678insFs

c.2033_2034dupAG

1 paper

NM_005732.4

p.Q678*

c.2032C>T

2 papers

NM_005732.4

p.Q678fs

c.2032_2033fs

2 papers

NM_005732.4

p.Q678L

c.2033A>T