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.T119fs

c.355_356fs

Surrounding Variants

1 paper

NM_005732.4

p.T119P

c.355A>C

1 paper

NM_005732.4

p.T119A

c.355A>G

2 papers

NM_005732.4

p.T119fs

c.355_356fs

9 papers

NM_005732.4

p.I118T

c.353T>C

2 papers

NM_005732.4

p.I118fs

c.352_353fs

1 paper

NM_005732.4

p.I118V

c.352A>G

1 paper

NM_005732.4

p.R120*

c.358A>T

7 papers

NM_005732.4

p.I118delFs

c.354delT

1 paper

NM_005732.4

p.V117V

c.351C>T

1 paper

NM_005732.4

p.V117D

c.350T>A

1 paper

NM_005732.4

p.V117A

c.350T>C

1 paper

NM_005732.4

p.T121S

c.361A>T