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

44 papers

NM_007294.4

p.D1778G

c.5333A>G

Surrounding Variants

10 papers

NM_007294.4

p.D1778fs

c.5332_5333fs

1 paper

NM_007294.4

p.D1778V

c.5333A>T

2 papers

NM_007294.4

p.D1778A

c.5333A>C

3 papers

NM_007294.4

p.D1778E

c.5334T>G

8 papers

NM_007294.4

p.D1778D

c.5334T>C

5 papers

NM_007294.4

p.D1778E

c.5334T>A

29 papers

NM_007294.4

p.D1778Y

c.5332G>T

18 papers

NM_007294.4

p.D1778Splc

c.5333-1G>C

51 papers

NM_007294.4

p.D1778Splc

c.5333-1G>A

NM_007300.4

p.D1778N

c.5332G>A

12 papers

NM_007294.4

p.Q1779*

c.5335C>T

4 papers

NM_007294.4

p.Q1779E

c.5335C>G

2 papers

NM_007294.4

p.Q1779K

c.5335C>A