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

8 papers

NM_007294.4

p.L95F

c.283C>T

Surrounding Variants

6 papers

NM_007294.4

p.L95fs

c.283_284fs

4 papers

NM_007294.4

p.L95V

c.283C>G

3 papers

NM_007294.4

p.L95insFs

c.283_284ins10

2 papers

NM_007294.4

p.L95ins8

c.283_284ins24

1 paper

NM_007294.4

p.L95insFs

c.283_284insGC

1 paper

NM_007294.4

p.L95_D96ins6

c.283_287ins18

7 papers

NM_007294.4

p.L95I

c.283C>A

1 paper

NM_007294.4

p.Q94delFs

c.282delC

1 paper

NM_007294.4

p.A92_Q94del3

c.274_281del9

6 papers

NM_007294.4

p.L95R

c.284T>G

8 papers

NM_007294.4

p.L95P

c.284T>C

6 papers

NM_007294.4

p.L95H

c.284T>A