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.E1304*

c.3910G>T

Surrounding Variants

2 papers

NM_007294.4

p.L1303insFs

c.3908_3909dupTG

2 papers

NM_007294.4

p.E1304Q

c.3910G>C

2 papers

NM_007294.4

p.E1304K

c.3910G>A

2 papers

NM_007294.4

p.L1303delFs

c.3908_3909delCA

5 papers

NM_007294.4

p.C1300_L1303del4

c.3898_3908del12

4 papers

NM_007294.4

p.E1304fs

c.3910_3911fs

1 paper

NM_007294.4

p.L1303F

c.3909G>T

2 papers

NM_007294.4

p.L1303insFs

c.3908dupT

1 paper

NM_007294.4

p.L1303_E1304insFs

c.3909_3910insTG

1 paper

NM_007294.4

p.L1303fs

c.3907_3908fs

1 paper

NM_007294.4

p.L1303_E1304insFs

c.3909_3910insA

1 paper

NM_007294.4

p.L1303F

c.3909G>C