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

4 papers

NM_014641.3

p.G1401V

c.4202G>T

Surrounding Variants

2 papers

NM_014641.3

p.R1398K

c.4193G>A

1 paper

NM_014641.3

p.T1406P

c.4216A>C

1 paper

NM_014641.3

p.K1396T

c.4187A>C

2 papers

NM_014641.3

p.L1407V

c.4219C>G

1 paper

NM_014641.3

p.G1394E

c.4181G>A

1 paper

NM_014641.3

p.R1390Q

c.4169G>A

2 papers

NM_014641.3

p.K1413E

c.4237A>G

1 paper

NM_014641.3

p.K1413R

c.4238A>G

1 paper

NM_014641.3

p.E1415Q

c.4243G>C

1 paper

NM_014641.3

p.E1386fs

c.4156_4157fs

1 paper

NM_014641.3

p.P1416L

c.4247C>T

1 paper

NM_014641.3

p.P1385fs

c.4153_4154fs