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.D794ins2

c.2381_2382ins6

Surrounding Variants

1 paper

NM_001141980.3

p.A796S

c.2386G>T

1 paper

NM_001141980.3

p.W792*

c.2376G>A

1 paper

NM_001141980.3

p.W792*

c.2375G>A

1 paper

NM_001141980.3

p.P797S

c.2389C>T

1 paper

NM_001141980.3

p.D794_A796del3

c.2380_2387del9

1 paper

NM_001141980.3

p.E798insFs

c.2393_2394insCT

2 papers

NM_001141980.3

p.D788N

c.2362G>A

1 paper

NM_001141980.3

p.P801L

c.2402C>T

1 paper

NM_001141980.3

p.S787L

c.2360C>T

1 paper

NM_001141980.3

p.L807F

c.2421A>C

1 paper

NM_001141980.3

p.K810R

c.2429A>G

1 paper

NM_001141980.3

p.T809_E811delFs

c.2427_2431del5