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

16 papers

NM_007294.4

p.L1854P

c.5561T>C

Surrounding Variants

1 paper

NM_007294.4

p.L1854insFs

c.5561_5562ins4

5 papers

NM_007294.4

p.L1854delFs

c.5560delG

5 papers

NM_007294.4

p.T1852_L1854delFs

c.5556_5560del5

1 paper

NM_007294.4

p.T1852_L1854delFs

c.5554_5560del7

1 paper

NM_007294.4

p.L1854fs

c.5560_5561fs

1 paper

NM_007294.4

p.L1854delFs

c.5560_5561delAG

2 papers

NM_007294.4

p.L1854_I1855insA

c.5560_5564ins3

2 papers

NM_007294.4

p.L1854M

c.5560C>A

77 papers

NM_007294.4

p.Y1853*

c.5559C>G

1 paper

NM_007294.4

p.Y1853_L1854insFs

c.5559_5560insT

4 papers

NM_007294.4

p.Y1853fs

c.5557_5558fs

17 papers

NM_007294.4

p.Y1853insFs

c.5558dupA