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.L1605S

c.4814T>C

Surrounding Variants

1 paper

NM_007294.4

p.L1605W

c.4814T>G

1 paper

NM_007294.4

p.L1605*

c.4814T>A

6 papers

NM_007294.4

p.L1605V

c.4813T>G

3 papers

NM_007294.4

p.L1605L

c.4813T>C

2 papers

NM_007294.4

p.L1605M

c.4813T>A

1 paper

NM_007294.4

p.L1605F

c.4815G>T

1 paper

NM_007294.4

p.L1605insFs

c.4814_4815ins4

1 paper

NM_007294.4

p.L1605_K1606insFs

c.4815_4816insA

1 paper

NM_007294.4

p.L1605F

c.4815G>C

5 papers

NM_007294.4

p.L1605L

c.4815G>A

1 paper

NM_007294.4

p.L1605fs

c.4813_4814fs

1 paper

NM_007294.4

p.K1606*

c.4816A>T