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

7 papers

NM_007294.4

p.V35F

c.103G>T

Surrounding Variants

6 papers

NM_007294.4

p.V35L

c.103G>C

10 papers

NM_007294.4

p.V35I

c.103G>A

3 papers

NM_007294.4

p.P34delFs

c.102delA

7 papers

NM_007294.4

p.V35G

c.104T>G

2 papers

NM_007294.4

p.P34P

c.102T>G

9 papers

NM_007294.4

p.V35A

c.104T>C

2 papers

NM_007294.4

p.P34P

c.102T>C

6 papers

NM_007294.4

p.V35D

c.104T>A

3 papers

NM_007294.4

p.P34P

c.102T>A

3 papers

NM_007294.4

p.P34delFs

c.100delG

13 papers

NM_007294.4

p.P34L

c.101C>T

2 papers

NM_007294.4

p.V35V

c.105C>T