Varaico: Literature-Extracted Genetic Variants

TP53BP1

632 papers

RefSeq Summary

This gene encodes a protein that functions in the DNA double-strand break repair pathway choice, promoting non-homologous end joining (NHEJ) pathways, and limiting homologous recombination. This prote...

Pfam Domains

53-BP1_Tudoraa 1438–1559UCSCTumour suppressor p53-binding protein-1 Tudor

BRCT_3aa 1822–1925UCSCBRCA1 C Terminus (BRCT) domain

Gene Aliases

HGNC Name

tumor protein p53 binding protein 1

HGNC Alias Symbols

53BP1; p202; TDRD30

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001141980.3

p.Q704L

c.2111A>T

Surrounding Variants

1 paper

NM_001141980.3

p.Q704R

c.2111A>G

1 paper

NM_001141980.3

p.G705W

c.2113G>T

1 paper

NM_001141980.3

p.C707R

c.2119T>C

1 paper

NM_001141980.3

p.C707Y

c.2120G>A

1 paper

NM_001141980.3

p.S697_T699del3

c.2089_2096del9

2 papers

NM_001141980.3

p.Q709*

c.2125C>T

1 paper

NM_001141980.3

p.E711fs

c.2131_2132fs

1 paper

NM_001141980.3

p.P693P

c.2079G>A

4 papers

NM_001141980.3

p.K715delFs

c.2145delT

2 papers

NM_001141980.3

p.E716fs

c.2146_2147fs

1 paper

NM_001141980.3

p.E716fs

c.2146_2147fs

1 paper

NM_001141980.3

p.S718P

c.2152T>C