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

20 papers

NM_007294.4

p.R1507T

c.4520G>C

Surrounding Variants

1 paper

NM_007294.4

p.R1507K

c.4520G>A

3 papers

NM_007294.4

p.R1507S

c.4521G>T

3 papers

NM_007294.4

p.R1507S

c.4521G>C

2 papers

NM_007294.4

p.R1507R

c.4521G>A

1 paper

NM_007294.4

p.R1507G

c.4519A>G

2 papers

NM_007294.4

p.R1507_W1508ins10

c.4519_4523ins30

1 paper

NM_007294.4

p.D1506fs

c.4516_4517fs

1 paper

NM_007294.4

p.D1506E

c.4518T>G

3 papers

NM_007294.4

p.W1508R

c.4522T>C

1 paper

NM_007294.4

p.D1506D

c.4518T>C

3 papers

NM_007294.4

p.W1508R

c.4522T>A

1 paper

NM_007294.4

p.D1506E

c.4518T>A