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.P669insFs

c.2006_2007ins16

Surrounding Variants

1 paper

NM_014641.3

p.R672insFs

c.2015_2016ins10

1 paper

NM_014641.3

p.R672K

c.2015G>A

1 paper

NM_014641.3

p.P661S

c.1981C>T

1 paper

NM_014641.3

p.G679C

c.2035G>T

2 papers

NM_014641.3

p.K682E

c.2044A>G

1 paper

NM_014641.3

p.D683A

c.2048A>C

1 paper

NM_014641.3

p.D653E

c.1959C>A

1 paper

NM_014641.3

p.D686A

c.2057A>C

1 paper

NM_014641.3

p.N687insFs

c.2061dupC

1 paper

NM_014641.3

p.L645H

c.1934T>A

1 paper

NM_014641.3

p.L638_R642del5

c.1912_1925del15

1 paper

NM_014641.3

p.R642K

c.1925G>A