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.A875A

c.2625T>A

Surrounding Variants

1 paper

NM_001141980.3

p.K878E

c.2632A>G

1 paper

NM_001141980.3

p.K873E

c.2617A>G

1 paper

NM_001141980.3

p.D871E

c.2613C>G

1 paper

NM_001141980.3

p.D871E

c.2613C>A

1 paper

NM_001141980.3

p.T869delFs

c.2606delG

1 paper

NM_001141980.3

p.A884S

c.2650G>T

1 paper

NM_001141980.3

p.Q887K

c.2659C>A

1 paper

NM_001141980.3

p.P892S

c.2674C>T

1 paper

NM_001141980.3

p.P858S

c.2572C>T

1 paper

NM_001141980.3

p.A896insFs

c.2686_2687insT

1 paper

NM_001141980.3

p.S903N

c.2708G>A

1 paper

NM_001141980.3

p.D847N

c.2539G>A