Varaico: Literature-Extracted Genetic Variants

Gene:RAD51D
Variant:p.H250delFs

RAD51D

661 papers

RefSeq Summary

The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51, which are known to be involved i...

Pfam Domains

RAD51D_Naa 1–60UCSCRAD51D, N-terminal domain
RAD51D_Naa 1–60UCSCRAD51D, N-terminal domain
RAD51D_Naa 1–60UCSCRAD51D, N-terminal domain
Rad51aa 76–300UCSCRad51

Gene Aliases

HGNC Name

RAD51 paralog D

HGNC Previous Symbol

RAD51L3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002878.4
p.H250delFs
c.750delG
Surrounding Variants
2 papers
NM_002878.4
p.I251fs
c.751_752fs
3 papers
NM_002878.4
p.H250fs
c.748_749fs
2 papers
NM_002878.4
p.I251M
c.753A>G
2 papers
NM_002878.4
p.I251delFs
c.752delA
14 papers
NM_002878.4
p.H250delFs
c.748delG
1 paper
NM_002878.4
p.T252fs
c.754_755fs
5 papers
NM_002878.4
p.H250fs
c.748_749fs
2 papers
NM_002878.4
p.T252delFs
c.754delT
19 papers
NM_002878.4
p.R253*
c.757C>T
NM_001142571.2
p.R273*
c.817C>T
1 paper
NM_002878.4
p.R253R
c.757C>A
1 paper
NM_002878.4
p.D254fs
c.760_761fs
2 papers
NM_002878.4
p.V247insFs
c.740_741dupTG
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."