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.C684S

c.2051G>C

Surrounding Variants

1 paper

NM_005732.4

p.C684S

c.2050T>A

1 paper

NM_005732.4

p.C684R

c.2050T>C

2 papers

NM_005732.4

p.C684G

c.2050T>G

1 paper

NM_005732.4

p.C684_Q685insFs

c.2052_2053insC

1 paper

NM_005732.4

p.Q685fs

c.2053_2054fs

1 paper

NM_005732.4

p.Q685*

c.2053C>T

2 papers

NM_005732.4

p.R686_V687delFs

c.2058_2059delAG

1 paper

NM_005732.4

p.Q685fs

c.2053_2054fs

7 papers

NM_005732.4

p.V683I

c.2047G>A

1 paper

NM_005732.4

p.V683fs

c.2047_2048fs

1 paper

NM_005732.4

p.R686fs

c.2056_2057fs

1 paper

NM_005732.4

p.P682R

c.2045C>G