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.A412delFs

c.1235delG

Surrounding Variants

1 paper

NM_014641.3

p.L416W

c.1247T>G

1 paper

NM_014641.3

p.E409K

c.1225G>A

1 paper

NM_014641.3

p.L419Q

c.1256T>A

1 paper

NM_014641.3

p.D403H

c.1207G>C

1 paper

NM_014641.3

p.D403N

c.1207G>A

1 paper

NM_014641.3

p.I426T

c.1277T>C

1 paper

NM_014641.3

p.W427_N428insA

c.1279_1283ins3

1 paper

NM_014641.3

p.E392G

c.1175A>G

1 paper

NM_014641.3

p.E433A

c.1298A>C

4 papers

NM_014641.3

p.P386L

c.1157C>T

1 paper

NM_014641.3

p.T378_D379del2

c.1132_1136del6

1 paper

NM_014641.3

p.T378A

c.1132A>G