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.A367delFs

c.1100delG

Surrounding Variants

6 papers

NM_014641.3

p.E371K

c.1111G>A

1 paper

NM_014641.3

p.E371V

c.1112A>T

1 paper

NM_014641.3

p.S372G

c.1114A>G

1 paper

NM_014641.3

p.S372R

c.1114A>C

1 paper

NM_014641.3

p.T378A

c.1132A>G

1 paper

NM_014641.3

p.T358I

c.1073C>T

1 paper

NM_014641.3

p.G357insFs

c.1069_1070insAC

1 paper

NM_014641.3

p.T378_D379del2

c.1132_1136del6

1 paper

NM_014641.3

p.F353I

c.1057T>A

1 paper

NM_014641.3

p.R337_R350delFs

c.1009_1049del41

4 papers

NM_014641.3

p.P386L

c.1157C>T

1 paper

NM_014641.3

p.K349R

c.1046A>G