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

8 papers

NM_007294.4

p.E489K

c.1465G>A

Surrounding Variants

30 papers

NM_007294.4

p.E489*

c.1465G>T

4 papers

NM_007294.4

p.E489insFs

c.1465_1466insC

1 paper

NM_007294.4

p.E489_P490insG

c.1465_1469ins3

3 papers

NM_007294.4

p.E489fs

c.1465_1466fs

3 papers

NM_007294.4

p.T488_E489insFs

c.1464_1465insA

2 papers

NM_007294.4

p.T488T

c.1464T>C

5 papers

NM_007294.4

p.E489G

c.1466A>G

1 paper

NM_007294.4

p.E489D

c.1467G>T

1 paper

NM_007294.4

p.E489fs

c.1465_1466fs

1 paper

NM_007294.4

p.E489insFs

c.1466_1467insA

1 paper

NM_007294.4

p.E489D

c.1467G>C

3 papers

NM_007294.4

p.E489E

c.1467G>A