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.K1361R

c.4082A>G

Surrounding Variants

1 paper

NM_014641.3

p.T1355K

c.4064C>A

1 paper

NM_014641.3

p.P1374insFs

c.4120_4121insA

1 paper

NM_014641.3

p.P1374fs

c.4120_4121fs

1 paper

NM_014641.3

p.P1375fs

c.4123_4124fs

1 paper

NM_014641.3

p.P1375delFs

c.4124delG

2 papers

NM_014641.3

p.T1343I

c.4028C>T

1 paper

NM_014641.3

p.E1380D

c.4140G>T

1 paper

NM_014641.3

p.E1380D

c.4140G>C

1 paper

NM_014641.3

p.P1385fs

c.4153_4154fs

1 paper

NM_014641.3

p.E1386fs

c.4156_4157fs

1 paper

NM_014641.3

p.P1330_I1334delFs

c.3988_4001del14

2 papers

NM_014641.3

p.I1334T

c.4001T>C