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.P1859R

c.5576C>G

Surrounding Variants

1 paper

NM_014641.3

p.V1857L

c.5569G>T

1 paper

NM_014641.3

p.V1857L

c.5569G>C

3 papers

NM_014641.3

p.D1855E

c.5565T>G

3 papers

NM_014641.3

p.D1855E

c.5565T>A

1 paper

NM_014641.3

p.R1879S

c.5635C>A

3 papers

NM_014641.3

p.R1882*

c.5644C>T

5 papers

NM_014641.3

p.R1883Q

c.5648G>A

1 paper

NM_014641.3

p.E1853V

c.5558A>T

1 paper

NM_014641.3

p.E1853K

c.5557G>A

1 paper

NM_014641.3

p.G1851ins1

c.5552_5553insAAG

1 paper

NM_014641.3

p.P1850delins

c.5548_5549delinsGA

1 paper

NM_014641.3

p.E1842V

c.5525A>T