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.I670insFs

c.2010dupT

Surrounding Variants

1 paper

NM_005732.4

p.F669L

c.2007C>A

1 paper

NM_005732.4

p.F669L

c.2007C>G

1 paper

NM_005732.4

p.T671S

c.2011A>T

1 paper

NM_005732.4

p.F669L

c.2005T>C

1 paper

NM_005732.4

p.T671S

c.2012C>G

1 paper

NM_005732.4

p.T671I

c.2012C>T

2 papers

NM_005732.4

p.Q668R

c.2003A>G

1 paper

NM_005732.4

p.Q672E

c.2014C>G

4 papers

NM_005732.4

p.Q672*

c.2014C>T

2 papers

NM_005732.4

p.Q668*

c.2002C>T

1 paper

NM_005732.4

p.S667C

c.2000C>G

1 paper

NM_005732.4

p.T674_D675ins16

c.2020_2024ins48