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.E728D

c.2184A>C

Surrounding Variants

1 paper

NM_005732.4

p.E728D

c.2184A>T

1 paper

NM_005732.4

p.E728*

c.2182G>T

1 paper

NM_005732.4

p.M729K

c.2186T>A

1 paper

NM_005732.4

p.D727fs

c.2179_2180fs

1 paper

NM_005732.4

p.G731_L732del2

c.2191_2195del6

1 paper

NM_005732.4

p.R726R

c.2178T>G

15 papers

NM_005732.4

p.R726H

c.2177G>A

1 paper

NM_005732.4

p.R726P

c.2177G>C

1 paper

NM_005732.4

p.G731R

c.2191G>C

1 paper

NM_005732.4

p.R726delFs

c.2178delT

4 papers

NM_005732.4

p.R726C

c.2176C>T

1 paper

NM_005732.4

p.L732I

c.2194C>A