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

1–12 of 2166 variants

62 papers

NM_005732.4

p.K722insFs

c.2165dupA

47 papers

NM_005732.4

p.S229delFs

c.687delT

38 papers

NM_005732.4

p.K722delFs

c.2165delA

32 papers

NM_005732.4

p.E723fs

c.2167_2168fs

30 papers

NM_005732.4

p.R327H

c.980G>A

29 papers

NM_005732.4

p.T109_E110delFs

c.326_329del4

28 papers

NM_005732.4

p.R365Q

c.1094G>A

27 papers

NM_005732.4

p.K722fs

c.2164_2165fs

26 papers

NM_005732.4

p.I94L

c.280A>C

25 papers

NM_005732.4

p.I94L

c.280A>T

22 papers

NM_005732.4

p.V127I

c.379G>A

22 papers

NM_005732.4

p.Y625*

c.1875C>G