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.E1282G

c.3845A>G

Surrounding Variants

16 papers

NM_007294.4

p.E1282V

c.3845A>T

1 paper

NM_007294.4

p.E1282A

c.3845A>C

2 papers

NM_007294.4

p.E1282delFs

c.3844delC

3 papers

NM_007294.4

p.E1282*

c.3844G>T

3 papers

NM_007294.4

p.E1282insFs

c.3844_3845insCG

2 papers

NM_007294.4

p.E1282K

c.3844G>A

1 paper

NM_007294.4

p.Q1281del1

c.3841_3842delCTG

2 papers

NM_007294.4

p.S1280_Q1281delFs

c.3839_3843del5

1 paper

NM_007294.4

p.S1280_Q1281del2

c.3838_3842del6

1 paper

NM_007294.4

p.E1282D

c.3846A>T

3 papers

NM_007294.4

p.E1282E

c.3846A>G

1 paper

NM_007294.4

p.E1282D

c.3846A>C