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.K608R

c.1823A>G

Surrounding Variants

1 paper

NM_005732.4

p.K608fs

c.1822_1823fs

1 paper

NM_005732.4

p.K608N

c.1824A>C

1 paper

NM_005732.4

p.K608N

c.1824A>T

2 papers

NM_005732.4

p.N607_K608insFs

c.1821_1822insA

1 paper

NM_005732.4

p.N609T

c.1826A>C

3 papers

NM_005732.4

p.N607Y

c.1819A>T

1 paper

NM_005732.4

p.H610Y

c.1828C>T

1 paper

NM_005732.4

p.H610R

c.1829A>G

1 paper

NM_005732.4

p.N612_N613delFs

c.1835_1838del4

1 paper

NM_005732.4

p.I611V

c.1831A>G

1 paper

NM_005732.4

p.E605Q

c.1813G>C

2 papers

NM_005732.4

p.N613S

c.1838A>G