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

11 papers

NM_007294.4

p.C44G

c.130T>G

Surrounding Variants

1 paper

NM_007294.4

p.C44insFs

c.130_131insA

12 papers

NM_007294.4

p.C44R

c.130T>C

55 papers

NM_007294.4

p.C44S

c.130T>A

2 papers

NM_007294.4

p.C44fs

c.130_131fs

2 papers

NM_007294.4

p.F43fs

c.127_128fs

8 papers

NM_007294.4

p.F43L

c.129T>G

2 papers

NM_007294.4

p.F43F

c.129T>C

8 papers

NM_007294.4

p.F43L

c.129T>A

83 papers

NM_007294.4

p.C44F

c.131G>T

1 paper

NM_007294.4

p.C44insFs

c.130dupT

49 papers

NM_007294.4

p.C44S

c.131G>C

50 papers

NM_007294.4

p.C44Y

c.131G>A