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.P674R

c.2021C>G

Surrounding Variants

1 paper

NM_007294.4

p.P674L

c.2021C>T

1 paper

NM_007294.4

p.P674fs

c.2020_2021fs

1 paper

NM_007294.4

p.P674P

c.2022T>C

3 papers

NM_007294.4

p.P674delFs

c.2020delG

1 paper

NM_007294.4

p.P674fs

c.2020_2021fs

2 papers

NM_007294.4

p.P674S

c.2020C>T

1 paper

NM_007294.4

p.P674_A675ins16

c.2020_2024ins48

28 papers

NM_007294.4

p.E673delFs

c.2019delT

1 paper

NM_007294.4

p.K672_E673delFs

c.2016_2019del4

7 papers

NM_007294.4

p.E673fs

c.2017_2018fs

1 paper

NM_007294.4

p.A675fs

c.2023_2024fs

1 paper

NM_007294.4

p.A675V

c.2024C>T