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

28 papers

NM_005732.4

p.R365Q

c.1094G>A

Surrounding Variants

3 papers

NM_005732.4

p.R365*

c.1093C>T

1 paper

NM_005732.4

p.I364I

c.1092C>A

1 paper

NM_005732.4

p.A366V

c.1097C>T

1 paper

NM_005732.4

p.R367S

c.1101A>C

1 paper

NM_005732.4

p.R367S

c.1101A>T

1 paper

NM_005732.4

p.H363Y

c.1087C>T

1 paper

NM_005732.4

p.D368H

c.1102G>C

1 paper

NM_005732.4

p.D368Y

c.1102G>T

3 papers

NM_005732.4

p.E362Q

c.1084G>C

1 paper

NM_005732.4

p.E362*

c.1084G>T

1 paper

NM_005732.4

p.S369fs

c.1105_1106fs

1 paper

NM_005732.4

p.S369*

c.1106C>A