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.K604_A605insFs

c.1812_1813insC

Surrounding Variants

1 paper

NM_007294.4

p.K604N

c.1812A>T

1 paper

NM_007294.4

p.K604N

c.1812A>C

1 paper

NM_007294.4

p.K604Fs

c.1811_1812delinsGFs

1 paper

NM_007297.4

p.I553_K557del0

c.1659_1670del12

1 paper

NM_007294.4

p.A605insFs

c.1813_1814insC

8 papers

NM_007294.4

p.A605insFs

c.1813_1814insA

1 paper

NM_007294.4

p.A605T

c.1813G>A

8 papers

NM_007294.4

p.K604delFs

c.1812delT

1 paper

NM_007297.4

p.S556_K557del1

c.1668_1670delTTT

1 paper

NM_007294.4

p.K604I

c.1811A>T

1 paper

NM_007294.4

p.K604R

c.1811A>G

4 papers

NM_007294.4

p.A605fs

c.1813_1814fs