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

22 papers

NM_005732.4

p.V127I

c.379G>A

Surrounding Variants

1 paper

NM_005732.4

p.V127F

c.379G>T

1 paper

NM_005732.4

p.K126R

c.377A>G

1 paper

NM_005732.4

p.S128fs

c.382_383fs

1 paper

NM_005732.4

p.E125K

c.373G>A

1 paper

NM_005732.4

p.E125Q

c.373G>C

1 paper

NM_005732.4

p.E125*

c.373G>T

1 paper

NM_005732.4

p.G124D

c.371G>A

2 papers

NM_005732.4

p.G124R

c.370G>C

1 paper

NM_005732.4

p.S130N

c.389G>A

1 paper

NM_005732.4

p.H123L

c.368A>T

1 paper

NM_005732.4

p.S131T

c.391T>A

1 paper

NM_005732.4

p.S131fs

c.391_392fs