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

4 papers

NM_007294.4

p.L1705I

c.5113C>A

Surrounding Variants

2 papers

NM_007294.4

p.L1705L

c.5113C>T

8 papers

NM_007294.4

p.L1705V

c.5113C>G

5 papers

NM_007294.4

p.F1704delFs

c.5112delA

1 paper

NM_007294.4

p.K1702_F1704del3

c.5104_5111del9

2 papers

NM_007294.4

p.L1705fs

c.5113_5114fs

9 papers

NM_007294.4

p.F1704L

c.5112T>G

7 papers

NM_007294.4

p.L1705R

c.5114T>G

15 papers

NM_007294.4

p.L1705P

c.5114T>C

9 papers

NM_007294.4

p.F1704L

c.5112T>A

7 papers

NM_007294.4

p.L1705Q

c.5114T>A

1 paper

NM_007294.4

p.F1704delins

c.5110_5111delinsTT

5 papers

NM_007294.4

p.F1704C

c.5111T>G