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.P922_V923del0

c.2764_2769del6

Surrounding Variants

1 paper

NM_014641.3

p.N925H

c.2773A>C

1 paper

NM_014641.3

p.A924_N925delFs

c.2771_2775del5

1 paper

NM_014641.3

p.R926insFs

c.2776dupA

1 paper

NM_014641.3

p.R921K

c.2762G>A

1 paper

NM_014641.3

p.R926fs

c.2776_2777fs

1 paper

NM_014641.3

p.E927fs

c.2779_2780fs

1 paper

NM_014641.3

p.C928Y

c.2783G>A

1 paper

NM_014641.3

p.V919A

c.2756T>C

4 papers

NM_014641.3

p.R917S

c.2751A>T

4 papers

NM_014641.3

p.R917S

c.2751A>C

2 papers

NM_014641.3

p.A931V

c.2792C>T

1 paper

NM_014641.3

p.V905delFs

c.2714delA