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.D1667E

c.5001C>A

Surrounding Variants

1 paper

NM_014641.3

p.D1667E

c.5001C>G

2 papers

NM_014641.3

p.V1670I

c.5008G>A

1 paper

NM_014641.3

p.T1664S

c.4991C>G

1 paper

NM_014641.3

p.T1671A

c.5011A>G

1 paper

NM_014641.3

p.T1664S

c.4990A>T

1 paper

NM_014641.3

p.L1660L

c.4980T>C

1 paper

NM_014641.3

p.T1683A

c.5047A>G

1 paper

NM_014641.3

p.T1649I

c.4946C>T

1 paper

NM_014641.3

p.R1644S

c.4932G>T

1 paper

NM_014641.3

p.R1644S

c.4932G>C

2 papers

NM_014641.3

p.A1691T

c.5071G>A

1 paper

NM_014641.3

p.R1640_K1641delins

c.4918_4922delinsTGCAG