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

1–12 of 726 variants

9 papers

NM_001141980.3

p.D358E

c.1074C>G

9 papers

NM_001141980.3

p.K1141Q

c.3421A>C

8 papers

NM_001141980.3

p.D358E

c.1074C>A

8 papers

NM_001141980.3

p.I1179V

c.3535A>G

6 papers

NM_001141980.3

p.S227F

c.680C>T

6 papers

NM_001141980.3

p.P454_P456del0

c.1362_1367del6

6 papers

NM_001141980.3

p.V1031A

c.3092T>C

4 papers

NM_001141980.3

p.K715delFs

c.2145delT

4 papers

NM_001141980.3

p.E742D

c.2226A>T

4 papers

NM_001141980.3

p.E742D

c.2226A>C

3 papers

NM_001141980.3

p.S320C

c.959C>G

3 papers

NM_001141980.3

p.Q578L

c.1733A>T