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

41 papers

NM_007294.4

p.P1099L

c.3296C>T

NM_007297.4

p.P1052L

c.3155C>T

Surrounding Variants

1 paper

NM_007294.4

p.P1099R

c.3296C>G

9 papers

NM_007294.4

p.P1099fs

c.3295_3296fs

36 papers

NM_007294.4

p.P1099delFs

c.3296delG

24 papers

NM_007294.4

p.P1099fs

c.3295_3296fs

1 paper

NM_007294.4

p.P1099A

c.3295C>G

1 paper

NM_007294.4

p.P1099insFs

c.3295_3296insA

19 papers

NM_007294.4

p.L1098delFs

c.3294delA

1 paper

NM_007294.4

p.S1097_L1098delFs

c.3291_3294del4

9 papers

NM_007294.4

p.L1098fs

c.3292_3293fs

1 paper

NM_007294.4

p.L1098L

c.3294T>G

1 paper

NM_007294.4

p.L1098L

c.3294T>C

2 papers

NM_007294.4

p.G1100*

c.3298G>T