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.L629Q

c.1886T>A

Surrounding Variants

1 paper

NM_005732.4

p.K628M

c.1883A>T

1 paper

NM_005732.4

p.D631insFs

c.1891_1892insC

1 paper

NM_005732.4

p.D631E

c.1893T>A

1 paper

NM_005732.4

p.E626E

c.1878A>G

1 paper

NM_005732.4

p.E626A

c.1877A>C

1 paper

NM_005732.4

p.E626K

c.1876G>A

21 papers

NM_005732.4

p.Y625*

c.1875C>A

1 paper

NM_005732.4

p.E626_V632insFs

c.1876_1895dup20

22 papers

NM_005732.4

p.Y625*

c.1875C>G

1 paper

NM_005732.4

p.C633_G634insFs

c.1899_1900insCA

1 paper

NM_005732.4

p.G634D

c.1901G>A

1 paper

NM_005732.4

p.Y625delFs

c.1873delT