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

3 papers

NM_007294.4

p.V1607fs

c.4819_4820fs

Surrounding Variants

1 paper

NM_007294.4

p.V1607F

c.4819G>T

1 paper

NM_007294.4

p.V1607_A1608insT

c.4819_4823ins3

1 paper

NM_007294.4

p.V1607I

c.4819G>A

3 papers

NM_007294.4

p.K1606delFs

c.4818delT

5 papers

NM_007300.4

p.V1628A

c.4883T>C

NM_007294.4

p.V1607A

c.4820T>C

1 paper

NM_007294.4

p.V1607D

c.4820T>A

1 paper

NM_007294.4

p.V1607V

c.4821T>C

1 paper

NM_007294.4

p.S1595_K1606delFs

c.4783_4816del34

2 papers

NM_007294.4

p.A1608S

c.4822G>T

1 paper

NM_007294.4

p.A1608T

c.4822G>A

3 papers

NM_007294.4

p.V1607delFs

c.4821delA

6 papers

NM_007294.4

p.P1603_V1607del0

c.4807_4821del15