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

7 papers

NM_007294.4

p.L574P

c.1721T>C

Surrounding Variants

1 paper

NM_007294.4

p.L574R

c.1721T>G

1 paper

NM_007294.4

p.L574H

c.1721T>A

2 papers

NM_007294.4

p.L574L

c.1722C>T

1 paper

NM_007294.4

p.L574F

c.1720C>T

1 paper

NM_007294.4

p.S573_L574insFs

c.1719_1720insA

3 papers

NM_007294.4

p.L574I

c.1720C>A

1 paper

NM_007294.4

p.L574fs

c.1720_1721fs

1 paper

NM_007294.4

p.E572_S573del2

c.1714_1718del6

1 paper

NM_007294.4

p.K566_S573del8

c.1696_1718del24

5 papers

NM_007294.4

p.E575*

c.1723G>T

28 papers

NM_007294.4

p.E575K

c.1723G>A

2 papers

NM_007294.4

p.S573fs

c.1717_1718fs