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.N363D

c.1087A>G

Surrounding Variants

10 papers

NM_007294.4

p.N363fs

c.1087_1088fs

1 paper

NM_007294.4

p.E362delFs

c.1086delC

5 papers

NM_007294.4

p.E362D

c.1086G>T

1 paper

NM_007294.4

p.E362_N363insFs

c.1086_1087insT

2 papers

NM_007294.4

p.E362fs

c.1084_1085fs

4 papers

NM_007294.4

p.E362D

c.1086G>C

1 paper

NM_007294.4

p.S361_E362delFs

c.1082_1085del4

1 paper

NM_007294.4

p.N363I

c.1088A>T

9 papers

NM_007294.4

p.N363S

c.1088A>G

1 paper

NM_007294.4

p.N363insFs

c.1088_1089insC

6 papers

NM_007294.4

p.E362_N363delFs

c.1086_1087delTC

6 papers

NM_007294.4

p.N363fs

c.1087_1088fs