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

4 papers

NM_007294.4

p.S592N

c.1775G>A

Surrounding Variants

1 paper

NM_007294.4

p.S592T

c.1775G>C

1 paper

NM_007294.4

p.S592S

c.1776C>T

3 papers

NM_007294.4

p.S592R

c.1776C>G

3 papers

NM_007294.4

p.S592R

c.1776C>A

1 paper

NM_007294.4

p.S592C

c.1774A>T

3 papers

NM_007294.4

p.S592G

c.1774A>G

3 papers

NM_007294.4

p.S592R

c.1774A>C

1 paper

NM_007294.4

p.S592_N593insT

c.1774_1778ins3

1 paper

NM_007294.4

p.I591I

c.1773A>T

5 papers

NM_007294.4

p.I591M

c.1773A>G

2 papers

NM_007294.4

p.I591fs

c.1771_1772fs

1 paper

NM_007294.4

p.N593_M594ins5

c.1777_1781ins15