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.V1203A

c.3608T>C

Surrounding Variants

3 papers

NM_014641.3

p.T1205A

c.3613A>G

1 paper

NM_014641.3

p.T1205K

c.3614C>A

5 papers

NM_014641.3

p.T1201P

c.3601A>C

1 paper

NM_014641.3

p.L1207P

c.3620T>C

1 paper

NM_014641.3

p.S1192N

c.3575G>A

2 papers

NM_014641.3

p.D1216N

c.3646G>A

1 paper

NM_014641.3

p.R1217Q

c.3650G>A

1 paper

NM_014641.3

p.G1189R

c.3565G>C

3 papers

NM_014641.3

p.V1186A

c.3557T>C

1 paper

NM_014641.3

p.T1224I

c.3671C>T

1 paper

NM_014641.3

p.S1225Y

c.3674C>A

3 papers

NM_014641.3

p.S1180P

c.3538T>C