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

3 papers

NM_014641.3

p.P1100A

c.3298C>G

Surrounding Variants

1 paper

NM_014641.3

p.P1093L

c.3278C>T

1 paper

NM_014641.3

p.K1106delFs

c.3317delT

1 paper

NM_014641.3

p.R1110W

c.3328C>T

4 papers

NM_014641.3

p.S1112F

c.3335C>T

1 paper

NM_014641.3

p.Q1087K

c.3259C>A

1 paper

NM_014641.3

p.Q1083K

c.3247C>A

1 paper

NM_014641.3

p.P1117L

c.3350C>T

2 papers

NM_014641.3

p.R1079C

c.3235C>T

1 paper

NM_014641.3

p.V1078I

c.3232G>A

1 paper

NM_014641.3

p.T1077I

c.3230C>T

1 paper

NM_014641.3

p.L1070P

c.3209T>C

1 paper

NM_014641.3

p.P1069_L1070insAC

c.3205_3209ins6