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.A657Splc

c.1970-3T>A

Surrounding Variants

1 paper

NM_005732.4

p.A657Splc

c.1970-1G>A

1 paper

NM_005732.4

p.A657Splc

c.1970-1G>T

1 paper

NM_005732.4

p.A657V

c.1970C>T

1 paper

NM_005732.4

p.M658I

c.1974G>A

1 paper

NM_005732.4

p.M658I

c.1974G>C

1 paper

NM_005732.4

p.M658I

c.1974G>T

1 paper

NM_005732.4

p.A660insFs

c.1978dupG

1 paper

NM_005732.4

p.G661A

c.1982G>C

1 paper

NM_005732.4

p.G661G

c.1983A>T

1 paper

NM_005732.4

p.A662P

c.1984G>C

1 paper

NM_005732.4

p.A662V

c.1985C>T

1 paper

NM_005732.4

p.A662A

c.1986C>T