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

12 papers

NM_007294.4

p.R1085insFs

c.3254_3255dupGA

Surrounding Variants

1 paper

NM_007294.4

p.R1085insFs

c.3255dupA

5 papers

NM_007294.4

p.L1086fs

c.3256_3257fs

55 papers

NM_007294.4

p.L1086*

c.3257T>G

6 papers

NM_007294.4

p.L1086S

c.3257T>C

45 papers

NM_007294.4

p.L1086*

c.3257T>A

5 papers

NM_007294.4

p.R1085fs

c.3253_3254fs

1 paper

NM_007294.4

p.R1085_L1086insFs

c.3255_3256insGA

2 papers

NM_007294.4

p.R1085delFs

c.3254delC

3 papers

NM_007294.4

p.R1085I

c.3254G>T

8 papers

NM_007294.4

p.R1085insFs

c.3253dupA

1 paper

NM_007294.4

p.R1085insFs

c.3253_3254insAA

1 paper

NM_007294.4

p.R1085K

c.3254G>A