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.N1274S

c.3821A>G

Surrounding Variants

1 paper

NM_014641.3

p.G1271E

c.3812G>A

1 paper

NM_014641.3

p.A1268delFs

c.3802delC

1 paper

NM_014641.3

p.P1283T

c.3847C>A

2 papers

NM_014641.3

p.V1285V

c.3855G>C

1 paper

NM_014641.3

p.P1286P

c.3858C>T

1 paper

NM_014641.3

p.T1287insFs

c.3861dupA

1 paper

NM_014641.3

p.A1288fs

c.3862_3863fs

1 paper

NM_014641.3

p.A1288A

c.3864C>A

1 paper

NM_014641.3

p.P1289T

c.3865C>A

1 paper

NM_014641.3

p.P1289fs

c.3865_3866fs

8 papers

NM_014641.3

p.R1292Q

c.3875G>A

1 paper

NM_014641.3

p.P1293P

c.3879T>A