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.V1895A

c.5684T>C

Surrounding Variants

1 paper

NM_014641.3

p.E1906Q

c.5716G>C

1 paper

NM_014641.3

p.V1909M

c.5725G>A

1 paper

NM_014641.3

p.L1912Q

c.5735T>A

1 paper

NM_014641.3

p.G1913V

c.5738G>T

1 paper

NM_014641.3

p.G1913G

c.5739G>T

1 paper

NM_014641.3

p.A1921T

c.5761G>A

1 paper

NM_014641.3

p.S1924P

c.5770T>C

1 paper

NM_014641.3

p.V1927A

c.5780T>C

1 paper

NM_014641.3

p.R1933W

c.5797C>T

1 paper

NM_014641.3

p.R1933Q

c.5798G>A

1 paper

NM_014641.3

p.T1934A

c.5800A>G

1 paper

NM_014641.3

p.K1936E

c.5806A>G