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

1 paper

NM_007294.4

p.S1130_D1131insFs

c.3390_3391insT

Surrounding Variants

1 paper

NM_007294.4

p.S1130fs

c.3388_3389fs

1 paper

NM_007294.4

p.D1131Y

c.3391G>T

1 paper

NM_007294.4

p.D1131H

c.3391G>C

4 papers

NM_007294.4

p.D1131N

c.3391G>A

1 paper

NM_007294.4

p.I1129_S1130delFs

c.3387_3390del4

1 paper

NM_007294.4

p.I1129_S1130del2

c.3385_3389del6

1 paper

NM_007294.4

p.S1130L

c.3389C>T

8 papers

NM_007294.4

p.S1130*

c.3389C>G

1 paper

NM_007294.4

p.I1129insFs

c.3386dupT

5 papers

NM_007294.4

p.S1130*

c.3389C>A

3 papers

NM_007294.4

p.S1130delFs

c.3388delA

1 paper

NM_007294.4

p.S1130P

c.3388T>C