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.T1138insFs

c.3413dupC

Surrounding Variants

1 paper

NM_014641.3

p.T1138fs

c.3412_3413fs

1 paper

NM_014641.3

p.P1139S

c.3415C>T

1 paper

NM_014641.3

p.T1142R

c.3425C>G

1 paper

NM_014641.3

p.A1134D

c.3401C>A

1 paper

NM_014641.3

p.A1134S

c.3400G>T

1 paper

NM_014641.3

p.R1152M

c.3455G>T

1 paper

NM_014641.3

p.P1117L

c.3350C>T

1 paper

NM_014641.3

p.P1160T

c.3478C>A

4 papers

NM_014641.3

p.S1112F

c.3335C>T

1 paper

NM_014641.3

p.R1110W

c.3328C>T

1 paper

NM_014641.3

p.L1168P

c.3503T>C

1 paper

NM_014641.3

p.K1106delFs

c.3317delT