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.Q1327fs

c.3979_3980fs

Surrounding Variants

1 paper

NM_007294.4

p.Q1327H

c.3981G>T

1 paper

NM_007294.4

p.Q1327insFs

c.3980_3981insA

1 paper

NM_007294.4

p.Q1327H

c.3981G>C

1 paper

NM_007294.4

p.Q1327delFs

c.3979_3980delTG

2 papers

NM_007294.4

p.Q1323_H1326del4

c.3967_3977del12

1 paper

NM_007294.4

p.S1328P

c.3982T>C

1 paper

NM_007294.4

p.S1328T

c.3982T>A

4 papers

NM_007294.4

p.Q1327delFs

c.3981delC

4 papers

NM_007294.4

p.S1328fs

c.3982_3983fs

5 papers

NM_007294.4

p.Q1327R

c.3980A>G

2 papers

NM_007294.4

p.Q1327fs

c.3979_3980fs

15 papers

NM_007294.4

p.Q1327*

c.3979C>T