Varaico: Literature-Extracted Genetic Variants

BRCA1

8,702 papers

RefSeq Summary

This gene encodes a 190 kD nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The BRCA1 gene contains 22 exons spanning about 110 kb of ...

Pfam Domains

zf-RING_UBOXaa 24–52UCSCRING-type zinc-finger

zf-C3HC4aa 24–64UCSCZinc finger, C3HC4 type (RING finger)

BRCT_assocaa 345–508UCSCSerine-rich domain associated with BRCT

BRCTaa 1642–1723UCSCBRCA1 C Terminus (BRCT) domain

BRCTaa 1756–1842UCSCBRCA1 C Terminus (BRCT) domain

Gene Aliases

HGNC Name

BRCA1 DNA repair associated

HGNC Alias Symbols

RNF53; BRCC1; PPP1R53; FANCS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_007294.4

p.L1455*

c.4364T>G

Surrounding Variants

2 papers

NM_007294.4

p.L1455S

c.4364T>C

1 paper

NM_007294.4

p.L1455*

c.4364T>A

1 paper

NM_007294.4

p.L1455I

c.4363T>A

2 papers

NM_007294.4

p.L1455F

c.4365A>T

2 papers

NM_007294.4

p.L1455F

c.4365A>C

1 paper

NM_007294.4

p.T1456fs

c.4366_4367fs

1 paper

NM_007294.4

p.V1454V

c.4362A>T

5 papers

NM_007294.4

p.T1456A

c.4366A>G

1 paper

NM_007294.4

p.V1454V

c.4362A>G

1 paper

NM_007294.4

p.V1454insFs

c.4361_4362insT

1 paper

NM_007294.4

p.V1454fs

c.4360_4361fs

5 papers

NM_007294.4

p.V1454A

c.4361T>C