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

7 papers

NM_014641.3

p.G1558C

c.4672G>T

Surrounding Variants

1 paper

NM_014641.3

p.G1558S

c.4672G>A

1 paper

NM_014641.3

p.T1556P

c.4666A>C

1 paper

NM_014641.3

p.A1555T

c.4663G>A

1 paper

NM_014641.3

p.R1554W

c.4660C>T

1 paper

NM_014641.3

p.P1546L

c.4637C>T

2 papers

NM_014641.3

p.S1570T

c.4708T>A

1 paper

NM_014641.3

p.Q1545R

c.4634A>G

2 papers

NM_014641.3

p.I1571V

c.4711A>G

1 paper

NM_014641.3

p.P1573P

c.4719T>C

2 papers

NM_014641.3

p.S1542F

c.4625C>T

2 papers

NM_014641.3

p.I1574T

c.4721T>C

1 paper

NM_014641.3

p.T1541A

c.4621A>G