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

62 papers

NM_005732.4

p.K722insFs

c.2165dupA

Surrounding Variants

38 papers

NM_005732.4

p.K722delFs

c.2165delA

1 paper

NM_005732.4

p.L719_K720insFs

c.2157_2158insT

20 papers

NM_005732.4

p.L719fs

c.2155_2156fs

3 papers

NM_005732.4

p.L719insFs

c.2156dupT

1 paper

NM_005732.4

p.K720insFs

c.2158_2159insT

1 paper

NM_005732.4

p.K720R

c.2159A>G

1 paper

NM_005732.4

p.K720N

c.2160A>C

1 paper

NM_005732.4

p.E718K

c.2152G>A

2 papers

NM_005732.4

p.K721K

c.2163A>G

21 papers

NM_005732.4

p.K722fs

c.2164_2165fs

27 papers

NM_005732.4

p.K722fs

c.2164_2165fs

16 papers

NM_005732.4

p.K722insFs

c.2165_2166insT