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.P1245P

c.3735C>T

Surrounding Variants

1 paper

NM_014641.3

p.T1246K

c.3737C>A

1 paper

NM_014641.3

p.V1244V

c.3732C>G

1 paper

NM_014641.3

p.P1242T

c.3724C>A

1 paper

NM_014641.3

p.P1252T

c.3754C>A

1 paper

NM_014641.3

p.P1252L

c.3755C>T

3 papers

NM_014641.3

p.N1233S

c.3698A>G

1 paper

NM_014641.3

p.S1225Y

c.3674C>A

1 paper

NM_014641.3

p.T1224I

c.3671C>T

1 paper

NM_014641.3

p.A1268delFs

c.3802delC

1 paper

NM_014641.3

p.G1271E

c.3812G>A

1 paper

NM_014641.3

p.R1217Q

c.3650G>A

1 paper

NM_014641.3

p.N1274S

c.3821A>G