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

4 papers

NM_005732.4

p.P734delFs

c.2202delC

Surrounding Variants

1 paper

NM_005732.4

p.V733V

c.2199G>T

1 paper

NM_005732.4

p.P734S

c.2200C>T

1 paper

NM_005732.4

p.P734H

c.2201C>A

1 paper

NM_005732.4

p.V733M

c.2197G>A

1 paper

NM_005732.4

p.M735V

c.2203A>G

1 paper

NM_005732.4

p.L732I

c.2194C>A

1 paper

NM_005732.4

p.M735K

c.2204T>A

1 paper

NM_005732.4

p.G731R

c.2191G>C

1 paper

NM_005732.4

p.R736Splc

c.2207+1G>A

1 paper

NM_005732.4

p.R736Splc

c.2207+1G>T

1 paper

NM_005732.4

p.G731_L732del2

c.2191_2195del6

1 paper

NM_005732.4

p.M729K

c.2186T>A