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

2 papers

NM_007294.4

p.V1792E

c.5375T>A

Surrounding Variants

2 papers

NM_007294.4

p.V1792G

c.5375T>G

3 papers

NM_007294.4

p.V1792A

c.5375T>C

4 papers

NM_007294.4

p.V1792L

c.5374G>T

1 paper

NM_007294.4

p.V1792_K1793insFs

c.5376_5377insTG

2 papers

NM_007294.4

p.V1792_K1793insFs

c.5376_5377insA

4 papers

NM_007294.4

p.V1792L

c.5374G>C

6 papers

NM_007294.4

p.V1792M

c.5374G>A

1 paper

NM_007294.4

p.V1792fs

c.5374_5375fs

1 paper

NM_007294.4

p.V1791_V1792delins

c.5373_5374delinsAT

1 paper

NM_007294.4

p.S1790_V1791del2

c.5368_5372del6

1 paper

NM_007294.4

p.W1782_V1791del10

c.5344_5372del30

1 paper

NM_007294.4

p.V1791_V1792delins

c.5373_5374delinsTG