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.K685R

c.2054A>G

Surrounding Variants

1 paper

NM_001141980.3

p.E687V

c.2060A>T

1 paper

NM_001141980.3

p.E683*

c.2047G>T

1 paper

NM_001141980.3

p.E690G

c.2069A>G

1 paper

NM_001141980.3

p.E671_E678del0

c.2012_2032del21

1 paper

NM_001141980.3

p.E678*

c.2032G>T

1 paper

NM_001141980.3

p.P693P

c.2079G>A

1 paper

NM_001141980.3

p.E671*

c.2011G>T

1 paper

NM_001141980.3

p.S697_T699del3

c.2089_2096del9

1 paper

NM_001141980.3

p.V669A

c.2006T>C

1 paper

NM_001141980.3

p.E668Q

c.2002G>C

1 paper

NM_001141980.3

p.Q704L

c.2111A>T

1 paper

NM_001141980.3

p.Q704R

c.2111A>G