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.E115insFs

c.343dupG

Surrounding Variants

1 paper

NM_005732.4

p.L114V

c.340C>G

2 papers

NM_005732.4

p.E115K

c.343G>A

1 paper

NM_005732.4

p.E115fs

c.343_344fs

3 papers

NM_005732.4

p.E115*

c.343G>T

2 papers

NM_005732.4

p.E115A

c.344A>C

1 paper

NM_005732.4

p.E115G

c.344A>G

1 paper

NM_005732.4

p.T113I

c.338C>T

1 paper

NM_005732.4

p.G116R

c.346G>A

1 paper

NM_005732.4

p.G116fs

c.346_347fs

1 paper

NM_005732.4

p.K112R

c.335A>G

1 paper

NM_005732.4

p.G116A

c.347G>C

1 paper

NM_005732.4

p.K112E

c.334A>G