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.N609fs

c.1825_1826fs

Surrounding Variants

1 paper

NM_007294.4

p.N609D

c.1825A>G

1 paper

NM_007294.4

p.N609_R610ins4

c.1825_1829ins12

1 paper

NM_007297.4

p.H554_K561del0

c.1660_1683del24

2 papers

NM_007294.4

p.K608N

c.1824G>T

9 papers

NM_007294.4

p.K608fs

c.1822_1823fs

3 papers

NM_007294.4

p.K607insFs

c.1819_1820insA

3 papers

NM_007294.4

p.K608N

c.1824G>C

1 paper

NM_007294.4

p.K608K

c.1824G>A

20 papers

NM_007294.4

p.K608delFs

c.1823delT

1 paper

NM_007294.4

p.K607_K608delFs

c.1820_1823del4

1 paper

NM_007297.4

p.S556_K560del0

c.1668_1679del12

12 papers

NM_007294.4

p.N609S

c.1826A>G