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.T946I

c.2837C>T

Surrounding Variants

1 paper

NM_014641.3

p.Q947P

c.2840A>C

1 paper

NM_014641.3

p.R944fs

c.2830_2831fs

2 papers

NM_014641.3

p.P951_G954insFs

c.2851_2860dup10

2 papers

NM_014641.3

p.G954fs

c.2860_2861fs

2 papers

NM_014641.3

p.A931V

c.2792C>T

1 paper

NM_014641.3

p.C928Y

c.2783G>A

1 paper

NM_014641.3

p.E927fs

c.2779_2780fs

1 paper

NM_014641.3

p.P965T

c.2893C>A

2 papers

NM_014641.3

p.P965L

c.2894C>T

1 paper

NM_014641.3

p.R926fs

c.2776_2777fs

1 paper

NM_014641.3

p.R926insFs

c.2776dupA

1 paper

NM_014641.3

p.A924_N925delFs

c.2771_2775del5