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

204 papers

NM_007294.4

p.E23fs

c.67_68fs

Surrounding Variants

5 papers

NM_007294.4

p.E23*

c.67G>T

125 papers

NM_007294.4

p.L22insFs

c.66dupA

17 papers

NM_007294.4

p.E23Q

c.67G>C

9 papers

NM_007294.4

p.E23K

c.67G>A

1 paper

NM_007294.4

p.L22delFs

c.66delT

2 papers

NM_007294.4

p.L22delFs

c.65_66delTA

1 paper

NM_007294.4

p.I21_L22delFs

c.62_66del5

1 paper

NM_007294.4

p.I21_L22del2

c.61_65del6

1 paper

NM_007294.4

p.M18_L22del5

c.52_65del15

14 papers

NM_007294.4

p.E23V

c.68A>T

7 papers

NM_007294.4

p.L22F

c.66A>T

19 papers

NM_007294.4

p.E23G

c.68A>G