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.A80T

c.238G>A

Surrounding Variants

1 paper

NM_005732.4

p.A80D

c.239C>A

1 paper

NM_005732.4

p.A80A

c.240C>G

1 paper

NM_005732.4

p.Q81*

c.241C>T

1 paper

NM_005732.4

p.Q81H

c.243G>C

1 paper

NM_005732.4

p.Q81H

c.243G>T

1 paper

NM_005732.4

p.V78M

c.232G>A

1 paper

NM_005732.4

p.V78insFs

c.233_234insT

1 paper

NM_005732.4

p.V78L

c.232G>T

2 papers

NM_005732.4

p.I82N

c.245T>A

1 paper

NM_005732.4

p.D77A

c.230A>C

1 paper

NM_005732.4

p.D77G

c.230A>G

1 paper

NM_005732.4

p.R83G

c.247C>G