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

2 papers

NM_005732.4

p.L370*

c.1109T>G

Surrounding Variants

2 papers

NM_005732.4

p.L370*

c.1109T>A

1 paper

NM_005732.4

p.I371insFs

c.1111dupA

7 papers

NM_005732.4

p.L370delFs

c.1110delA

2 papers

NM_005732.4

p.L370fs

c.1108_1109fs

4 papers

NM_005732.4

p.I371fs

c.1111_1112fs

1 paper

NM_005732.4

p.S369*

c.1106C>A

1 paper

NM_005732.4

p.S369*

c.1106C>G

1 paper

NM_005732.4

p.S369_L370delFs

c.1107_1108delAT

1 paper

NM_005732.4

p.S369fs

c.1105_1106fs

5 papers

NM_005732.4

p.Q372*

c.1114C>T

1 paper

NM_005732.4

p.D368H

c.1102G>C

1 paper

NM_005732.4

p.D368Y

c.1102G>T