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

11 papers

NM_005657.4

p.D353E

c.1059C>G

NM_001141980.3

p.D358E

c.1074C>G

Surrounding Variants

10 papers

NM_005657.4

p.D353E

c.1059C>A

NM_001141980.3

p.D358E

c.1074C>A

1 paper

NM_001141980.3

p.S359G

c.1075A>G

1 paper

NM_001141980.3

p.S359N

c.1076G>A

1 paper

NM_001141980.3

p.S361Y

c.1082C>A

1 paper

NM_001141980.3

p.L355P

c.1064T>C

1 paper

NM_001141980.3

p.T362M

c.1085C>T

1 paper

NM_001141980.3

p.S354A

c.1060T>G

1 paper

NM_001141980.3

p.Q352_R353delFs

c.1056_1057delTC

1 paper

NM_001141980.3

p.S350F

c.1049C>T

1 paper

NM_001141980.3

p.L347M

c.1039C>A

1 paper

NM_001141980.3

p.L344R

c.1031T>G

1 paper

NM_001141980.3

p.L344P

c.1031T>C