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

2 papers

NM_014641.3

p.G206_F214delins

c.618_642delinsG

Surrounding Variants

3 papers

NM_014641.3

p.F214L

c.642C>G

3 papers

NM_014641.3

p.F214L

c.642C>A

2 papers

NM_014641.3

p.A213_F214delFs

c.638_642del5

1 paper

NM_014641.3

p.A213_F214del2

c.637_641del6

1 paper

NM_014641.3

p.G207_F214del0

c.619_642del24

3 papers

NM_014641.3

p.F214L

c.640T>C

1 paper

NM_014641.3

p.G206_F212delFs

c.618_636del19

2 papers

NM_014641.3

p.P210L

c.629C>T

1 paper

NM_014641.3

p.D219A

c.656A>C

1 paper

NM_014641.3

p.G206delFs

c.616delC

1 paper

NM_014641.3

p.L205L

c.615G>A

1 paper

NM_014641.3

p.P203L

c.608C>T