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.L358R

c.1073T>G

Surrounding Variants

1 paper

NM_007294.4

p.L358P

c.1073T>C

9 papers

NM_007294.4

p.L358delFs

c.1072delG

1 paper

NM_007294.4

p.L358L

c.1074G>T

2 papers

NM_007294.4

p.L358insFs

c.1073_1074insT

1 paper

NM_007294.4

p.L358fs

c.1072_1073fs

1 paper

NM_007294.4

p.L358L

c.1074G>A

4 papers

NM_007294.4

p.L358fs

c.1072_1073fs

1 paper

NM_007294.4

p.L358L

c.1072C>T

1 paper

NM_007294.4

p.L358V

c.1072C>G

2 papers

NM_007294.4

p.K357insFs

c.1071dupA

1 paper

NM_007294.4

p.K357delFs

c.1071delT

10 papers

NM_007294.4

p.P359S

c.1075C>T