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.E528K

c.1582G>A

Surrounding Variants

3 papers

NM_014641.3

p.G532E

c.1595G>A

1 paper

NM_014641.3

p.S533L

c.1598C>T

4 papers

NM_014641.3

p.D520H

c.1558G>C

2 papers

NM_014641.3

p.I536M

c.1608A>G

1 paper

NM_014641.3

p.K539R

c.1616A>G

1 paper

NM_014641.3

p.S516P

c.1546T>C

1 paper

NM_014641.3

p.R512K

c.1535G>A

1 paper

NM_014641.3

p.P506H

c.1517C>A

1 paper

NM_014641.3

p.E500D

c.1500A>T

1 paper

NM_014641.3

p.A560V

c.1679C>T

1 paper

NM_014641.3

p.K561R

c.1682A>G

2 papers

NM_014641.3

p.L562Q

c.1685T>A