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.P426insFs

c.1277dupC

Surrounding Variants

1 paper

NM_001141980.3

p.P426fs

c.1276_1277fs

1 paper

NM_001141980.3

p.P426L

c.1277C>T

1 paper

NM_001141980.3

p.L427_L428insA

c.1279_1283ins3

1 paper

NM_001141980.3

p.N424delFs

c.1271delT

1 paper

NM_001141980.3

p.P429T

c.1285C>A

1 paper

NM_001141980.3

p.E430K

c.1288G>A

1 paper

NM_001141980.3

p.E430A

c.1289A>C

1 paper

NM_001141980.3

p.S431A

c.1291T>G

1 paper

NM_001141980.3

p.V420E

c.1259T>A

1 paper

NM_001141980.3

p.V433L

c.1297G>C

1 paper

NM_001141980.3

p.P419delFs

c.1256delG

1 paper

NM_001141980.3

p.S434A

c.1300T>G