Varaico: Literature-Extracted Genetic Variants

MDC1

403 papers

RefSeq Summary

The protein encoded by this gene contains an N-terminal forkhead domain, two BRCA1 C-terminal (BRCT) motifs and a central domain with 13 repetitions of an approximately 41-amino acid sequence. The enc...

Pfam Domains

FHAaa 54–124UCSCFHA domain

RTT107_BRCT_5aa 1877–1970UCSCRegulator of Ty1 transposition protein 107 BRCT domain

BRCT_2aa 1994–2079UCSCBRCT domain

Gene Aliases

HGNC Name

mediator of DNA damage checkpoint 1

HGNC Alias Symbols

NFBD1; KIAA0170; Em:AB023051.5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014641.3

p.E609G

c.1826A>G

Surrounding Variants

1 paper

NM_014641.3

p.K616R

c.1847A>G

1 paper

NM_014641.3

p.Q617*

c.1849C>T

1 paper

NM_014641.3

p.S598N

c.1793G>A

1 paper

NM_014641.3

p.H621insFs

c.1862dupA

1 paper

NM_014641.3

p.E622K

c.1864G>A

1 paper

NM_014641.3

p.V592delFs

c.1774_1775delAC

1 paper

NM_014641.3

p.Q626H

c.1878G>T

1 paper

NM_014641.3

p.Q626H

c.1878G>C

1 paper

NM_014641.3

p.G627R

c.1879G>C

1 paper

NM_014641.3

p.G627A

c.1880G>C

2 papers

NM_014641.3

p.S586A

c.1756T>G

1 paper

NM_014641.3

p.Q633*

c.1897C>T