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

1 paper

NM_005732.4

p.K132E

c.394A>G

Surrounding Variants

1 paper

NM_005732.4

p.K132R

c.395A>G

1 paper

NM_005732.4

p.C133_A134delFs

c.399_400delTG

1 paper

NM_005732.4

p.K132insFs

c.394dupA

1 paper

NM_005732.4

p.S131Y

c.392C>A

1 paper

NM_005732.4

p.S131insFs

c.393dupT

1 paper

NM_005732.4

p.S131_K132insFs

c.393_394insTT

2 papers

NM_005732.4

p.K132N

c.396G>C

2 papers

NM_005732.4

p.K132N

c.396G>T

1 paper

NM_005732.4

p.S131T

c.391T>A

1 paper

NM_005732.4

p.S131fs

c.391_392fs

1 paper

NM_005732.4

p.C133F

c.398G>T

1 paper

NM_005732.4

p.S130N

c.389G>A