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

3 papers

NM_007294.4

p.E1167K

c.3499G>A

Surrounding Variants

4 papers

NM_007294.4

p.E1167*

c.3499G>T

2 papers

NM_007294.4

p.E1167G

c.3500A>G

1 paper

NM_007294.4

p.E1167delFs

c.3499delC

1 paper

NM_007294.4

p.T1163_E1167delFs

c.3489_3499del11

4 papers

NM_007294.4

p.A1166V

c.3497C>T

1 paper

NM_007294.4

p.A1166D

c.3497C>A

3 papers

NM_007294.4

p.A1166delFs

c.3496delC

1 paper

NM_007294.4

p.E1167D

c.3501A>T

1 paper

NM_007294.4

p.E1167D

c.3501A>C

1 paper

NM_007294.4

p.E1167fs

c.3499_3500fs

1 paper

NM_007294.4

p.D1162_A1166del5

c.3484_3497del15

1 paper

NM_007294.4

p.A1166fs

c.3496_3497fs