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

2 papers

NM_005732.4

p.E723K

c.2167G>A

Surrounding Variants

13 papers

NM_005732.4

p.E723fs

c.2167_2168fs

1 paper

NM_005732.4

p.E723*

c.2167G>T

32 papers

NM_005732.4

p.E723fs

c.2167_2168fs

1 paper

NM_005732.4

p.E723V

c.2168A>T

16 papers

NM_005732.4

p.K722insFs

c.2165_2166insT

2 papers

NM_005732.4

p.K722R

c.2165A>G

1 paper

NM_005732.4

p.K722M

c.2165A>T

21 papers

NM_005732.4

p.K722fs

c.2164_2165fs

1 paper

NM_005732.4

p.K724E

c.2170A>G

27 papers

NM_005732.4

p.K722fs

c.2164_2165fs

2 papers

NM_005732.4

p.K721K

c.2163A>G

9 papers

NM_005732.4

p.R725W

c.2173C>T