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.I1433L

c.4297A>C

Surrounding Variants

1 paper

NM_007294.4

p.I1433L

c.4297A>T

4 papers

NM_007294.4

p.I1433V

c.4297A>G

1 paper

NM_007294.4

p.I1433fs

c.4297_4298fs

1 paper

NM_007294.4

p.P1430_I1432delFs

c.4290_4296del7

1 paper

NM_007294.4

p.I1432I

c.4296C>T

1 paper

NM_007294.4

p.I1432T

c.4295T>C

1 paper

NM_007294.4

p.I1432delFs

c.4294delT

1 paper

NM_007294.4

p.S1428_S1431del4

c.4282_4292del12

1 paper

NM_007294.4

p.I1433M

c.4299A>G

2 papers

NM_007294.4

p.S1434fs

c.4300_4301fs

1 paper

NM_007294.4

p.I1432fs

c.4294_4295fs

1 paper

NM_007294.4

p.S1434G

c.4300A>G