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.R138Q

c.413G>A

Surrounding Variants

1 paper

NM_005732.4

p.R138P

c.413G>C

1 paper

NM_005732.4

p.R138R

c.412C>A

13 papers

NM_005732.4

p.R138*

c.412C>T

1 paper

NM_005732.4

p.E139G

c.416A>G

1 paper

NM_005732.4

p.D137H

c.409G>C

1 paper

NM_005732.4

p.I136T

c.407T>C

2 papers

NM_005732.4

p.M140I

c.420G>A

3 papers

NM_005732.4

p.M140I

c.420G>C

2 papers

NM_005732.4

p.M140I

c.420G>T

1 paper

NM_005732.4

p.I141F

c.421A>T

2 papers

NM_005732.4

p.E135G

c.404A>G

1 paper

NM_005732.4

p.E135V

c.404A>T