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.L378L

c.1132C>T

Surrounding Variants

1 paper

NM_005732.4

p.L378P

c.1133T>C

1 paper

NM_005732.4

p.E379insFs

c.1135_1136insA

1 paper

NM_005732.4

p.A375S

c.1123G>T

1 paper

NM_005732.4

p.D381V

c.1142A>T

1 paper

NM_005732.4

p.G382C

c.1144G>T

1 paper

NM_005732.4

p.G382V

c.1145G>T

1 paper

NM_005732.4

p.S373F

c.1118C>T

1 paper

NM_005732.4

p.S373A

c.1117T>G

5 papers

NM_005732.4

p.Q372*

c.1114C>T

2 papers

NM_005732.4

p.E384K

c.1150G>A

1 paper

NM_005732.4

p.E384D

c.1152G>C

4 papers

NM_005732.4

p.I371fs

c.1111_1112fs