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

11 papers

NM_007294.4

p.L1295insFs

c.3883_3884insA

Surrounding Variants

1 paper

NM_007294.4

p.L1295L

c.3883T>C

2 papers

NM_007294.4

p.S1294delFs

c.3882delG

1 paper

NM_007294.4

p.S1294delFs

c.3881_3882delGC

1 paper

NM_007294.4

p.A1293_S1294del2

c.3877_3881del6

3 papers

NM_007294.4

p.L1295fs

c.3883_3884fs

1 paper

NM_007294.4

p.L1295W

c.3884T>G

1 paper

NM_007294.4

p.S1294_L1295delFs

c.3880_3883del4

1 paper

NM_007294.4

p.S1294I

c.3881G>T

1 paper

NM_007294.4

p.L1295fs

c.3883_3884fs

2 papers

NM_007294.4

p.S1294T

c.3881G>C

2 papers

NM_007294.4

p.L1295L

c.3885G>A

1 paper

NM_007294.4

p.A1293_S1294delFs

c.3879_3880delTA