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.G1371fs

c.4111_4112fs

Surrounding Variants

5 papers

NM_007294.4

p.A1369_S1370insFs

c.4107_4110dup4

1 paper

NM_007294.4

p.G1371_C1372ins5

c.4111_4115ins15

3 papers

NM_007294.4

p.G1371R

c.4111G>C

3 papers

NM_007294.4

p.G1371R

c.4111G>A

1 paper

NM_007294.4

p.S1370delFs

c.4110delA

2 papers

NM_007294.4

p.S1370_G1371insFs

c.4110_4111ins4

1 paper

NM_007294.4

p.S1370fs

c.4108_4109fs

1 paper

NM_007294.4

p.A1369_S1370Fs

c.4106_4110delinsATCFs

1 paper

NM_007294.4

p.G1371insFs

c.4112_4113ins4

2 papers

NM_007294.4

p.G1371E

c.4112G>A

3 papers

NM_007294.4

p.S1370_G1371delFs

c.4110_4111delCA

2 papers

NM_007294.4

p.G1371fs

c.4111_4112fs