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.T244I

c.731C>T

Surrounding Variants

1 paper

NM_001141980.3

p.I241_P242delFs

c.721_724del4

1 paper

NM_001141980.3

p.P242S

c.724C>T

1 paper

NM_001141980.3

p.S248G

c.742A>G

2 papers

NM_001141980.3

p.S248N

c.743G>A

1 paper

NM_001141980.3

p.E235_S238del4

c.703_713del12

1 paper

NM_001141980.3

p.V251L

c.751G>T

1 paper

NM_001141980.3

p.Q236delins

c.707_708delinsTA

1 paper

NM_001141980.3

p.Q236L

c.707A>T

2 papers

NM_001141980.3

p.A234G

c.701C>G

1 paper

NM_001141980.3

p.I233del1

c.697_699delTAT

1 paper

NM_001141980.3

p.I233I

c.699A>C

1 paper

NM_001141980.3

p.P232_I233insFs

c.696_697insT