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

25 papers

NM_005732.4

p.I94L

c.280A>T

Surrounding Variants

26 papers

NM_005732.4

p.I94L

c.280A>C

1 paper

NM_005732.4

p.L93L

c.279T>A

3 papers

NM_005732.4

p.I94T

c.281T>C

1 paper

NM_005732.4

p.I94R

c.281T>G

1 paper

NM_005732.4

p.I94delFs

c.282delA

1 paper

NM_005732.4

p.I94delFs

c.281_282delTA

1 paper

NM_005732.4

p.L93V

c.277C>G

1 paper

NM_005732.4

p.L93delFs

c.278delT

1 paper

NM_005732.4

p.A95V

c.284C>T

1 paper

NM_005732.4

p.E92V

c.275A>T

1 paper

NM_005732.4

p.E92Q

c.274G>C

1 paper

NM_005732.4

p.V96L

c.286G>C