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

1–12 of 568 variants

8 papers

NM_014641.3

p.R1292Q

c.3875G>A

7 papers

NM_014641.3

p.G1558C

c.4672G>T

6 papers

NM_014641.3

p.E371K

c.1111G>A

5 papers

NM_014641.3

p.R268K

c.803G>A

5 papers

NM_014641.3

p.T1201P

c.3601A>C

5 papers

NM_014641.3

p.R1883Q

c.5648G>A

5 papers

NM_014641.3

p.K1936M

c.5807A>T

4 papers

NM_014641.3

p.P386L

c.1157C>T

4 papers

NM_014641.3

p.D520H

c.1558G>C

4 papers

NM_014641.3

p.R917S

c.2751A>T

4 papers

NM_014641.3

p.R917S

c.2751A>C

4 papers

NM_014641.3

p.S1112F

c.3335C>T