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

1 paper

NM_005732.4

p.T690A

c.2068A>G

Surrounding Variants

1 paper

NM_005732.4

p.T690K

c.2069C>A

1 paper

NM_005732.4

p.Q689K

c.2065C>A

2 papers

NM_005732.4

p.Q689*

c.2065C>T

1 paper

NM_005732.4

p.E691D

c.2073G>T

1 paper

NM_005732.4

p.A692P

c.2074G>C

1 paper

NM_005732.4

p.A692A

c.2076T>C

1 paper

NM_005732.4

p.V687F

c.2059G>T

2 papers

NM_005732.4

p.R686K

c.2057G>A

1 paper

NM_005732.4

p.E693D

c.2079G>C

1 paper

NM_005732.4

p.E693D

c.2079G>T

1 paper

NM_005732.4

p.R686fs

c.2056_2057fs

1 paper

NM_005732.4

p.L694*

c.2081T>A