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.L347F

c.1039C>T

Surrounding Variants

1 paper

NM_005732.4

p.L347_V348delins

c.1041_1044delinsT

1 paper

NM_005732.4

p.L347P

c.1040T>C

1 paper

NM_005732.4

p.L346L

c.1036C>T

1 paper

NM_005732.4

p.V348I

c.1042G>A

1 paper

NM_005732.4

p.E349*

c.1045G>T

8 papers

NM_005732.4

p.Q350*

c.1048C>T

1 paper

NM_005732.4

p.G351S

c.1051G>A

1 paper

NM_005732.4

p.G351R

c.1051G>C

1 paper

NM_005732.4

p.G351V

c.1052G>T

1 paper

NM_005732.4

p.G351Splc

c.1051+2T>C

1 paper

NM_005732.4

p.Q341H

c.1023G>T

1 paper

NM_005732.4

p.N340fs

c.1018_1019fs