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.V315A

c.944T>C

Surrounding Variants

15 papers

NM_005732.4

p.V315L

c.943G>C

17 papers

NM_005732.4

p.V315L

c.943G>T

1 paper

NM_005732.4

p.T314T

c.942A>T

1 paper

NM_005732.4

p.T314R

c.941C>G

1 paper

NM_005732.4

p.R316M

c.947G>T

1 paper

NM_005732.4

p.E317*

c.949G>T

1 paper

NM_005732.4

p.K318*

c.952A>T

1 paper

NM_005732.4

p.K318N

c.954A>C

4 papers

NM_005732.4

p.Q312*

c.934C>T

1 paper

NM_005732.4

p.E319K

c.955G>A

1 paper

NM_005732.4

p.E319*

c.955G>T

1 paper

NM_005732.4

p.R320G

c.958A>G