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.I698V

c.2092A>G

Surrounding Variants

1 paper

NM_005732.4

p.D700E

c.2100T>A

1 paper

NM_005732.4

p.D700E

c.2100T>G

3 papers

NM_005732.4

p.Q695*

c.2083C>T

1 paper

NM_005732.4

p.L694*

c.2081T>A

1 paper

NM_005732.4

p.L694*

c.2081T>G

1 paper

NM_005732.4

p.Q702*

c.2104C>T

1 paper

NM_005732.4

p.Q702R

c.2105A>G

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.Q702Q

c.2106G>A

1 paper

NM_005732.4

p.S703insFs

c.2108_2109insCC

3 papers

NM_005732.4

p.S703Y

c.2108C>A