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

2 papers

NM_007294.4

p.G876E

c.2627G>A

Surrounding Variants

3 papers

NM_007294.4

p.G876*

c.2626G>T

1 paper

NM_007294.4

p.G876R

c.2626G>C

1 paper

NM_007294.4

p.G876R

c.2626G>A

1 paper

NM_007294.4

p.S868_P875del0

c.2602_2625del24

4 papers

NM_007294.4

p.N877fs

c.2629_2630fs

4 papers

NM_007294.4

p.F869_G876delFs

c.2606_2628del23

3 papers

NM_007294.4

p.P875L

c.2624C>T

1 paper

NM_007294.4

p.P875R

c.2624C>G

1 paper

NM_007294.4

p.N874_P875delFs

c.2622_2623delGA

7 papers

NM_007294.4

p.N877S

c.2630A>G

4 papers

NM_007294.4

p.N877delFs

c.2630delT

6 papers

NM_007294.4

p.P875S

c.2623C>T