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.S839S

c.2517C>A

Surrounding Variants

1 paper

NM_001141980.3

p.S839Y

c.2516C>A

1 paper

NM_001141980.3

p.P841S

c.2521C>T

2 papers

NM_001141980.3

p.D834D

c.2502T>C

1 paper

NM_001141980.3

p.D834N

c.2500G>A

1 paper

NM_001141980.3

p.D846G

c.2537A>G

1 paper

NM_001141980.3

p.D847N

c.2539G>A

1 paper

NM_001141980.3

p.P830L

c.2489C>T

1 paper

NM_001141980.3

p.P858S

c.2572C>T

1 paper

NM_001141980.3

p.D820G

c.2459A>G

1 paper

NM_001141980.3

p.D820Y

c.2458G>T

1 paper

NM_001141980.3

p.T809_E811delFs

c.2427_2431del5

1 paper

NM_001141980.3

p.K810R

c.2429A>G