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.L622F

c.1866G>T

Surrounding Variants

1 paper

NM_005732.4

p.L622F

c.1866G>C

1 paper

NM_005732.4

p.S623insFs

c.1868dupC

1 paper

NM_005732.4

p.S623F

c.1868C>T

1 paper

NM_005732.4

p.S624G

c.1870A>G

1 paper

NM_005732.4

p.Q621E

c.1861C>G

1 paper

NM_005732.4

p.Y625delFs

c.1873delT

1 paper

NM_005732.4

p.E620E

c.1860G>A

1 paper

NM_005732.4

p.E620K

c.1858G>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.E626K

c.1876G>A