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

2 papers

NM_001141980.3

p.S476*

c.1427C>G

Surrounding Variants

1 paper

NM_001141980.3

p.S476L

c.1427C>T

2 papers

NM_001141980.3

p.S476*

c.1427C>A

1 paper

NM_001141980.3

p.S476S

c.1428A>G

1 paper

NM_001141980.3

p.S476S

c.1428A>C

1 paper

NM_001141980.3

p.N477K

c.1431T>A

1 paper

NM_001141980.3

p.D478N

c.1432G>A

1 paper

NM_001141980.3

p.D482delFs

c.1446delA

1 paper

NM_001141980.3

p.M485T

c.1454T>C

2 papers

NM_001141980.3

p.V492I

c.1474G>A

1 paper

NM_001141980.3

p.V492insFs

c.1476dupT

1 paper

NM_001141980.3

p.S495C

c.1484C>G

1 paper

NM_001141980.3

p.S498L

c.1493C>T