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.S1482Y

c.4445C>A

Surrounding Variants

1 paper

NM_014641.3

p.S1481F

c.4442C>T

1 paper

NM_014641.3

p.A1473V

c.4418C>T

1 paper

NM_014641.3

p.Q1472K

c.4414C>A

1 paper

NM_014641.3

p.P1494L

c.4481C>T

1 paper

NM_014641.3

p.T1470M

c.4409C>T

1 paper

NM_014641.3

p.P1469S

c.4405C>T

2 papers

NM_014641.3

p.A1498P

c.4492G>C

1 paper

NM_014641.3

p.T1466A

c.4396A>G

1 paper

NM_014641.3

p.A1500S

c.4498G>T

1 paper

NM_014641.3

p.A1500T

c.4498G>A

1 paper

NM_014641.3

p.P1464H

c.4391C>A

2 papers

NM_014641.3

p.S1508P

c.4522T>C