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.F1010F

c.3030C>T

Surrounding Variants

1 paper

NM_001141980.3

p.N1011_L1012delins

c.3033_3034delinsTT

2 papers

NM_001141980.3

p.Q1009*

c.3025C>T

1 paper

NM_001141980.3

p.S1007F

c.3020C>T

1 paper

NM_001141980.3

p.E1006delFs

c.3017_3018delCT

1 paper

NM_001141980.3

p.E1006fs

c.3016_3017fs

1 paper

NM_001141980.3

p.A1003T

c.3007G>A

1 paper

NM_001141980.3

p.T1001I

c.3002C>T

1 paper

NM_001141980.3

p.T1001A

c.3001A>G

1 paper

NM_001141980.3

p.P999delins

c.2995_2996delinsTT

1 paper

NM_001141980.3

p.L996L

c.2986C>T

1 paper

NM_001141980.3

p.M994_K995insFs

c.2982_2983insT

1 paper

NM_005657.4

p.V981M

c.2941G>A