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.T1466A

c.4396A>G

Surrounding Variants

1 paper

NM_014641.3

p.P1464H

c.4391C>A

1 paper

NM_014641.3

p.P1469S

c.4405C>T

1 paper

NM_014641.3

p.T1470M

c.4409C>T

1 paper

NM_014641.3

p.Q1472K

c.4414C>A

1 paper

NM_014641.3

p.A1473V

c.4418C>T

1 paper

NM_014641.3

p.Q1456_P1457insFs

c.4368_4369ins11

1 paper

NM_014641.3

p.Q1456E

c.4366C>G

1 paper

NM_014641.3

p.E1454D

c.4362G>T

1 paper

NM_014641.3

p.E1454D

c.4362G>C

1 paper

NM_014641.3

p.P1453L

c.4358C>T

1 paper

NM_014641.3

p.S1481F

c.4442C>T

1 paper

NM_014641.3

p.P1450S

c.4348C>T