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.Q392H

c.1176G>C

Surrounding Variants

1 paper

NM_005732.4

p.Q392H

c.1176G>T

1 paper

NM_005732.4

p.I393_K394insTT

c.1177_1181ins6

1 paper

NM_005732.4

p.R391R

c.1173A>G

1 paper

NM_005732.4

p.K394E

c.1180A>G

1 paper

NM_005732.4

p.R391I

c.1172G>T

1 paper

NM_005732.4

p.E390D

c.1170A>C

1 paper

NM_005732.4

p.E390D

c.1170A>T

2 papers

NM_005732.4

p.Q392_I393delFs

c.1174_1177del4

1 paper

NM_005732.4

p.E390G

c.1169A>G

2 papers

NM_005732.4

p.E390V

c.1169A>T

2 papers

NM_005732.4

p.F396insFs

c.1188dupT

1 paper

NM_005732.4

p.N395T

c.1184A>C