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.K711Q

c.2131A>C

Surrounding Variants

1 paper

NM_005732.4

p.K713_S714insT

c.2137_2141ins3

1 paper

NM_005732.4

p.S714*

c.2141C>G

1 paper

NM_005732.4

p.L707L

c.2121T>A

1 paper

NM_005732.4

p.L707F

c.2119C>T

11 papers

NM_005732.4

p.R706*

c.2116C>T

1 paper

NM_005732.4

p.L705fs

c.2113_2114fs

1 paper

NM_005732.4

p.E718K

c.2152G>A

3 papers

NM_005732.4

p.S703Y

c.2108C>A

1 paper

NM_005732.4

p.S703C

c.2108C>G

1 paper

NM_005732.4

p.S703F

c.2108C>T

20 papers

NM_005732.4

p.L719fs

c.2155_2156fs

3 papers

NM_005732.4

p.L719insFs

c.2156dupT