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.S640Y

c.1919C>A

Surrounding Variants

1 paper

NM_001141980.3

p.T638I

c.1913C>T

1 paper

NM_001141980.3

p.L643F

c.1927C>T

1 paper

NM_001141980.3

p.A637S

c.1909G>T

1 paper

NM_001141980.3

p.S635L

c.1904C>T

1 paper

NM_001141980.3

p.S635A

c.1903T>G

1 paper

NM_001141980.3

p.Q649*

c.1945C>T

1 paper

NM_001141980.3

p.Q649_E650insFs

c.1947_1948insA

1 paper

NM_001141980.3

p.E651V

c.1952A>T

1 paper

NM_001141980.3

p.G629R

c.1885G>A

1 paper

NM_001141980.3

p.A652S

c.1954G>T

1 paper

NM_001141980.3

p.S628S

c.1884G>A

2 papers

NM_001141980.3

p.S628L

c.1883C>T