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.K412N

c.1236G>C

Surrounding Variants

2 papers

NM_001141980.3

p.L414F

c.1240C>T

2 papers

NM_005657.4

p.G412S

c.1234G>A

NM_001141980.3

p.G417S

c.1249G>A

1 paper

NM_001141980.3

p.E418K

c.1252G>A

1 paper

NM_001141980.3

p.G407R

c.1219G>A

1 paper

NM_001141980.3

p.G406*

c.1216G>T

1 paper

NM_001141980.3

p.P419delFs

c.1256delG

1 paper

NM_001141980.3

p.V420E

c.1259T>A

1 paper

NM_001141980.3

p.E404*

c.1210G>T

1 paper

NM_001141980.3

p.S403delFs

c.1209delA

1 paper

NM_001141980.3

p.S403S

c.1209T>A

1 paper

NM_001141980.3

p.N424delFs

c.1271delT

1 paper

NM_001141980.3

p.P426L

c.1277C>T