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

1 paper

NM_007294.4

p.L1558delFs

c.4674delT

Surrounding Variants

1 paper

NM_007294.4

p.E1559*

c.4675G>T

1 paper

NM_007294.4

p.L1558insFs

c.4674dupA

21 papers

NM_007294.4

p.E1559Q

c.4675G>C

NM_007300.4

p.E1580Q

c.4738G>C

50 papers

NM_007294.4

p.E1559K

c.4675G>A

1 paper

NM_007294.4

p.L1558del1

c.4672_4673delTAG

9 papers

NM_007294.4

p.E1559Splc

c.4675+1G>T

5 papers

NM_007294.4

p.E1559Splc

c.4675+1G>C

59 papers

NM_007294.4

p.E1559Splc

c.4675+1G>A

1 paper

NM_007294.4

p.D1557_L1558del2

c.4669_4673del6

7 papers

NM_007294.4

p.L1558L

c.4674A>G

1 paper

NM_007294.4

p.L1558fs

c.4672_4673fs

2 papers

NM_007294.4

p.Y1552_L1558delFs

c.4654_4673del20