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.T1425A

c.4273A>G

Surrounding Variants

1 paper

NM_014641.3

p.P1426T

c.4276C>A

1 paper

NM_014641.3

p.T1429I

c.4286C>T

1 paper

NM_014641.3

p.P1416L

c.4247C>T

1 paper

NM_014641.3

p.E1415Q

c.4243G>C

1 paper

NM_014641.3

p.K1413R

c.4238A>G

2 papers

NM_014641.3

p.K1413E

c.4237A>G

2 papers

NM_014641.3

p.L1407V

c.4219C>G

1 paper

NM_014641.3

p.K1443R

c.4328A>G

1 paper

NM_014641.3

p.T1406P

c.4216A>C

1 paper

NM_014641.3

p.T1447P

c.4339A>C

4 papers

NM_014641.3

p.G1401V

c.4202G>T

1 paper

NM_014641.3

p.P1450S

c.4348C>T