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

59 papers

NM_007294.4

p.D1692H

c.5074G>C

Surrounding Variants

37 papers

NM_007294.4

p.D1692Y

c.5074G>T

81 papers

NM_007294.4

p.D1692Splc

c.5075-1G>A

NM_007300.4

p.D1692N

c.5074G>A

7 papers

NM_007294.4

p.D1692fs

c.5074_5075fs

10 papers

NM_007294.4

p.D1692V

c.5075A>T

8 papers

NM_007294.4

p.D1692Splc

c.5075-2A>T

27 papers

NM_007294.4

p.D1692Splc

c.5075-2A>G

16 papers

NM_007294.4

p.D1692G

c.5075A>G

15 papers

NM_007294.4

p.D1692A

c.5075A>C

8 papers

NM_007294.4

p.D1692Splc

c.5075-2A>C

6 papers

NM_007294.4

p.D1692E

c.5076T>G

1 paper

NM_007294.4

p.D1692D

c.5076T>C

7 papers

NM_007294.4

p.D1692E

c.5076T>A