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

10 papers

NM_005732.4

p.S653*

c.1958C>G

Surrounding Variants

10 papers

NM_005732.4

p.S653*

c.1958C>A

1 paper

NM_005732.4

p.S653S

c.1959A>T

1 paper

NM_005732.4

p.K654fs

c.1960_1961fs

1 paper

NM_005732.4

p.K651I

c.1952A>T

1 paper

NM_005732.4

p.K651E

c.1951A>G

11 papers

NM_005732.4

p.R656*

c.1966C>T

3 papers

NM_005732.4

p.R656Q

c.1967G>A

1 paper

NM_005732.4

p.K651_S652insFs

c.1953_1954insA

1 paper

NM_005732.4

p.E650*

c.1948G>T

1 paper

NM_005732.4

p.K651delFs

c.1953delA

1 paper

NM_005732.4

p.A657Splc

c.1969+1G>A

1 paper

NM_005732.4

p.E648Q

c.1942G>C