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

37 papers

NM_007294.4

p.D1818G

c.5453A>G

Surrounding Variants

1 paper

NM_007294.4

p.D1818V

c.5453A>T

1 paper

NM_007294.4

p.D1818A

c.5453A>C

1 paper

NM_007294.4

p.E1817_D1818Fs

c.5450_5453delinsCAACATFs

1 paper

NM_007294.4

p.V1810_D1818delFs

c.5430_5452del23

1 paper

NM_007294.4

p.D1818Y

c.5452G>T

1 paper

NM_007294.4

p.D1818H

c.5452G>C

4 papers

NM_007294.4

p.D1818N

c.5452G>A

1 paper

NM_007294.4

p.E1817delFs

c.5450_5451delCT

1 paper

NM_007294.4

p.D1818E

c.5454C>G

1 paper

NM_007294.4

p.D1818fs

c.5452_5453fs

1 paper

NM_007294.4

p.D1818E

c.5454C>A

1 paper

NM_007294.4

p.D1818fs

c.5452_5453fs