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.P1532P

c.4596C>T

Surrounding Variants

1 paper

NM_014641.3

p.A1533T

c.4597G>A

1 paper

NM_014641.3

p.A1533E

c.4598C>A

2 papers

NM_014641.3

p.E1536A

c.4607A>C

1 paper

NM_014641.3

p.Q1538E

c.4612C>G

1 paper

NM_014641.3

p.T1526T

c.4578C>T

2 papers

NM_014641.3

p.S1540P

c.4618T>C

1 paper

NM_014641.3

p.T1541A

c.4621A>G

1 paper

NM_014641.3

p.V1524L

c.4570G>C

2 papers

NM_014641.3

p.S1542F

c.4625C>T

1 paper

NM_014641.3

p.Q1545R

c.4634A>G

1 paper

NM_014641.3

p.P1546L

c.4637C>T

1 paper

NM_014641.3

p.R1516M

c.4547G>T