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.C1767R

c.5299T>C

Surrounding Variants

2 papers

NM_007294.4

p.C1767G

c.5299T>G

5 papers

NM_007294.4

p.C1767S

c.5299T>A

5 papers

NM_007294.4

p.C1767fs

c.5299_5300fs

2 papers

NM_007294.4

p.E1765_I1766del2

c.5293_5297del6

2 papers

NM_007294.4

p.G1763_I1766del4

c.5287_5297del12

1 paper

NM_007294.4

p.C1767F

c.5300G>T

5 papers

NM_007294.4

p.C1767S

c.5300G>C

1 paper

NM_007294.4

p.C1767Y

c.5300G>A

5 papers

NM_007294.4

p.C1767delFs

c.5299delA

1 paper

NM_007294.4

p.I1766I

c.5298C>T

1 paper

NM_007294.4

p.I1766M

c.5298C>G

2 papers

NM_007294.4

p.I1766insFs

c.5297dupT