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.L645H

c.1934T>A

Surrounding Variants

1 paper

NM_014641.3

p.L638_R642del5

c.1912_1925del15

1 paper

NM_014641.3

p.R642K

c.1925G>A

1 paper

NM_014641.3

p.D653E

c.1959C>A

1 paper

NM_014641.3

p.Q633*

c.1897C>T

1 paper

NM_014641.3

p.P661S

c.1981C>T

1 paper

NM_014641.3

p.G627A

c.1880G>C

1 paper

NM_014641.3

p.G627R

c.1879G>C

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.E622K

c.1864G>A

1 paper

NM_014641.3

p.H621insFs

c.1862dupA

1 paper

NM_014641.3

p.P669insFs

c.2006_2007ins16