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.E244Q

c.730G>C

Surrounding Variants

1 paper

NM_014641.3

p.A241V

c.722C>T

1 paper

NM_014641.3

p.R239insFs

c.715dupA

1 paper

NM_014641.3

p.E251K

c.751G>A

1 paper

NM_014641.3

p.E259K

c.775G>A

1 paper

NM_014641.3

p.Q227insFs

c.680dupA

1 paper

NM_014641.3

p.D261A

c.782A>C

1 paper

NM_014641.3

p.R268M

c.803G>T

5 papers

NM_014641.3

p.R268K

c.803G>A

1 paper

NM_014641.3

p.D219A

c.656A>C

2 papers

NM_014641.3

p.A213_F214delFs

c.638_642del5

1 paper

NM_014641.3

p.A213_F214del2

c.637_641del6

1 paper

NM_014641.3

p.G207_F214del0

c.619_642del24