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.A737A

c.2211A>T

Surrounding Variants

1 paper

NM_001141980.3

p.A737V

c.2210C>T

1 paper

NM_001141980.3

p.A737E

c.2210C>A

2 papers

NM_001141980.3

p.A737S

c.2209G>T

1 paper

NM_001141980.3

p.Q734P

c.2201A>C

4 papers

NM_001141980.3

p.E742D

c.2226A>T

4 papers

NM_001141980.3

p.E742D

c.2226A>C

1 paper

NM_001141980.3

p.D731E

c.2193T>A

1 paper

NM_001141980.3

p.D731G

c.2192A>G

1 paper

NM_001141980.3

p.M721_E724del4

c.2161_2171del12

1 paper

NM_001141980.3

p.W751*

c.2252G>A

1 paper

NM_001141980.3

p.V723G

c.2168T>G

1 paper

NM_001141980.3

p.K715_E722del0

c.2145_2165del21