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.E402fs

c.1204_1205fs

Surrounding Variants

1 paper

NM_005732.4

p.E402K

c.1204G>A

1 paper

NM_005732.4

p.E402G

c.1205A>G

1 paper

NM_005732.4

p.R401T

c.1202G>C

2 papers

NM_005732.4

p.R403fs

c.1207_1208fs

2 papers

NM_005732.4

p.R401*

c.1201A>T

1 paper

NM_005732.4

p.R403K

c.1208G>A

1 paper

NM_005732.4

p.R403delFs

c.1209delA

2 papers

NM_005732.4

p.R403S

c.1209A>T

1 paper

NM_005732.4

p.V400E

c.1199T>A

1 paper

NM_005732.4

p.R403insFs

c.1208_1209dupGA

2 papers

NM_005732.4

p.R403delFs

c.1208_1209delGA

1 paper

NM_005732.4

p.E402_R403delFs

c.1206_1209del4