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.A411G

c.1232C>G

Surrounding Variants

1 paper

NM_005732.4

p.A411P

c.1231G>C

1 paper

NM_005732.4

p.N412H

c.1234A>C

1 paper

NM_005732.4

p.N412S

c.1235A>G

1 paper

NM_005732.4

p.N412_M415del0

c.1236_1244del9

1 paper

NM_005732.4

p.T410fs

c.1228_1229fs

2 papers

NM_005732.4

p.Q413fs

c.1237_1238fs

6 papers

NM_005732.4

p.Q413*

c.1237C>T

1 paper

NM_005732.4

p.Q413_L414delFs

c.1238_1241del4

1 paper

NM_005732.4

p.Q413L

c.1238A>T

1 paper

NM_005732.4

p.M415del1

c.1243_1244delATG

1 paper

NM_005732.4

p.K409insFs

c.1225dupA

1 paper

NM_005732.4

p.L414L

c.1242G>C