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.I1858insFs

c.5573_5574insA

Surrounding Variants

10 papers

NM_007294.4

p.I1858T

c.5573T>C

1 paper

NM_007294.4

p.Q1857delFs

c.5570_5571delCT

1 paper

NM_007294.4

p.I1858M

c.5574C>G

1 paper

NM_007294.4

p.I1858delFs

c.5573delA

2 papers

NM_007294.4

p.I1858delins

c.5572_5574delinsTGA

2 papers

NM_007294.4

p.I1855_I1858del0

c.5565_5573del9

2 papers

NM_007294.4

p.I1858F

c.5572A>T

3 papers

NM_007294.4

p.I1858V

c.5572A>G

23 papers

NM_007294.4

p.I1858L

c.5572A>C

1 paper

NM_007294.4

p.Q1857_I1858Fs

c.5569_5572delinsAGTFs

3 papers

NM_007294.4

p.Q1857H

c.5571G>T

3 papers

NM_007294.4

p.Q1857fs

c.5569_5570fs