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

2 papers

NM_005732.4

p.D637E

c.1911T>A

Surrounding Variants

2 papers

NM_005732.4

p.D637E

c.1911T>G

2 papers

NM_005732.4

p.Q636H

c.1908G>C

1 paper

NM_005732.4

p.Q636H

c.1908G>T

1 paper

NM_005732.4

p.E639*

c.1915G>T

1 paper

NM_005732.4

p.Q636fs

c.1906_1907fs

1 paper

NM_005732.4

p.S635N

c.1904G>A

4 papers

NM_005732.4

p.S635G

c.1903A>G

1 paper

NM_005732.4

p.G634D

c.1901G>A

1 paper

NM_005732.4

p.C633_G634insFs

c.1899_1900insCA

3 papers

NM_005732.4

p.L642V

c.1924T>G

1 paper

NM_005732.4

p.D643_K646del4

c.1927_1937del12

1 paper

NM_005732.4

p.D631E

c.1893T>A