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

3 papers

NM_007294.4

p.S1147Y

c.3440C>A

Surrounding Variants

2 papers

NM_007294.4

p.S1147delFs

c.3439delA

27 papers

NM_007294.4

p.C1146_S1147delFs

c.3436_3439del4

1 paper

NM_007294.4

p.S1147insFs

c.3440dupC

1 paper

NM_007294.4

p.S1139_C1146delFs

c.3416_3438del23

2 papers

NM_007294.4

p.S1147fs

c.3439_3440fs

5 papers

NM_007294.4

p.C1146fs

c.3436_3437fs

1 paper

NM_007294.4

p.C1146W

c.3438T>G

2 papers

NM_007294.4

p.C1146*

c.3438T>A

4 papers

NM_007294.4

p.E1148*

c.3442G>T

1 paper

NM_007294.4

p.E1148Q

c.3442G>C

1 paper

NM_007294.4

p.E1148K

c.3442G>A

25 papers

NM_007294.4

p.E1148fs

c.3442_3443fs