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

1 paper

NM_007294.4

p.P1771P

c.5313C>G

Surrounding Variants

1 paper

NM_007294.4

p.G1770_P1771insFs

c.5309_5312dup4

1 paper

NM_007294.4

p.P1771fs

c.5311_5312fs

1 paper

NM_007294.4

p.F1772insFs

c.5314_5315insA

1 paper

NM_007294.4

p.F1772V

c.5314T>G

1 paper

NM_007294.4

p.F1772L

c.5314T>C

1 paper

NM_007294.4

p.F1772I

c.5314T>A

15 papers

NM_007294.4

p.P1771L

c.5312C>T

17 papers

NM_007294.4

p.P1771R

c.5312C>G

1 paper

NM_007294.4

p.P1771insFs

c.5312_5313insAA

3 papers

NM_007294.4

p.P1771H

c.5312C>A

6 papers

NM_007294.4

p.F1772fs

c.5314_5315fs

1 paper

NM_007294.4

p.G1770_P1771delFs

c.5310_5311delGC