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.Q1826H

c.5478G>C

Surrounding Variants

1 paper

NM_014641.3

p.Q1826H

c.5478G>T

1 paper

NM_014641.3

p.K1825N

c.5475A>T

1 paper

NM_014641.3

p.K1825N

c.5475A>C

1 paper

NM_014641.3

p.S1833F

c.5498C>T

4 papers

NM_014641.3

p.K1840R

c.5519A>G

1 paper

NM_014641.3

p.E1842V

c.5525A>T

1 paper

NM_014641.3

p.E1842A

c.5525A>C

1 paper

NM_014641.3

p.S1810N

c.5429G>A

1 paper

NM_014641.3

p.K1806N

c.5418G>T

1 paper

NM_014641.3

p.K1806N

c.5418G>C

1 paper

NM_014641.3

p.Q1804L

c.5411A>T

1 paper

NM_014641.3

p.P1850delins

c.5548_5549delinsGA