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

39 papers

NM_007294.4

p.V1234fs

c.3700_3701fs

Surrounding Variants

1 paper

NM_007294.4

p.V1234V

c.3702A>T

2 papers

NM_007294.4

p.V1234G

c.3701T>G

2 papers

NM_007294.4

p.G1232_K1233del2

c.3694_3698del6

3 papers

NM_007294.4

p.N1235fs

c.3703_3704fs

2 papers

NM_007294.4

p.V1234L

c.3700G>T

3 papers

NM_007294.4

p.V1234L

c.3700G>C

1 paper

NM_007294.4

p.K1233delFs

c.3699delT

1 paper

NM_007294.4

p.N1235I

c.3704A>T

53 papers

NM_007294.4

p.V1234fs

c.3700_3701fs

1 paper

NM_007294.4

p.N1235K

c.3705C>G

3 papers

NM_007294.4

p.N1235_N1236insFs

c.3705_3706insA

1 paper

NM_007294.4

p.N1235K

c.3705C>A