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

3 papers

NM_005732.4

p.Q215*

c.643C>T

Surrounding Variants

1 paper

NM_005732.4

p.Q215E

c.643C>G

1 paper

NM_005732.4

p.K214_Q215insFs

c.642_643insTC

1 paper

NM_005732.4

p.K214insFs

c.642dupG

1 paper

NM_005732.4

p.K214E

c.640A>G

1 paper

NM_005732.4

p.K214fs

c.640_641fs

1 paper

NM_005732.4

p.L213L

c.639G>T

1 paper

NM_005732.4

p.L213L

c.637C>T

1 paper

NM_005732.4

p.Y212insFs

c.636dupT

1 paper

NM_005732.4

p.E218del1

c.652_653delGAA

1 paper

NM_005732.4

p.K211insFs

c.632_633insT

1 paper

NM_005732.4

p.K211I

c.632A>T

2 papers

NM_005732.4

p.K219fs

c.655_656fs