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

5 papers

NM_007294.4

p.Y1509C

c.4526A>G

Surrounding Variants

1 paper

NM_007294.4

p.Y1509S

c.4526A>C

59 papers

NM_007294.4

p.L1504_W1508del5

c.4510_4523del15

1 paper

NM_007294.4

p.Y1509_M1510insA

c.4525_4529ins3

1 paper

NM_007294.4

p.Y1509H

c.4525T>C

1 paper

NM_007294.4

p.D1505_W1508del4

c.4513_4523del12

2 papers

NM_007294.4

p.Y1509Y

c.4527C>T

4 papers

NM_007294.4

p.Y1509*

c.4527C>G

1 paper

NM_007294.4

p.Y1509fs

c.4525_4526fs

1 paper

NM_007294.4

p.W1508_Y1509insFs

c.4523_4526dup4

5 papers

NM_007294.4

p.Y1509*

c.4527C>A

1 paper

NM_007294.4

p.Y1509delFs

c.4526delT

1 paper

NM_007294.4

p.W1508_Y1509insFs

c.4524_4525insT