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

2 papers

NM_001141980.3

p.S452A

c.1354T>G

Surrounding Variants

1 paper

NM_001141980.3

p.P450_G451del0

c.1348_1353del6

1 paper

NM_001141980.3

p.P449_G451del0

c.1347_1352del6

1 paper

NM_001141980.3

p.G451R

c.1351G>C

1 paper

NM_001141980.3

p.G451R

c.1351G>A

1 paper

NM_001141980.3

p.P454S

c.1360C>T

1 paper

NM_001141980.3

p.P454L

c.1361C>T

1 paper

NM_001141980.3

p.I455fs

c.1363_1364fs

1 paper

NM_001141980.3

p.P454delFs

c.1362delA

1 paper

NM_001141980.3

p.I455N

c.1364T>A

1 paper

NM_001141980.3

p.F448Y

c.1343T>A

7 papers

NM_005657.4

p.P449_P451del0

c.1347_1352del6

NM_001141980.3

p.P454_P456del0

c.1362_1367del6

2 papers

NM_001141980.3

p.P454_P456del3

c.1360_1367del9