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.S1431fs

c.4291_4292fs

Surrounding Variants

1 paper

NM_007294.4

p.S1431S

c.4293C>A

2 papers

NM_007294.4

p.S1431F

c.4292C>T

1 paper

NM_007294.4

p.I1432fs

c.4294_4295fs

1 paper

NM_007294.4

p.I1432V

c.4294A>G

10 papers

NM_007294.4

p.I1432L

c.4294A>C

2 papers

NM_007294.4

p.S1431delFs

c.4293delG

6 papers

NM_007294.4

p.S1431P

c.4291T>C

1 paper

NM_007294.4

p.I1432T

c.4295T>C

1 paper

NM_007294.4

p.Y1429_P1430delFs

c.4286_4290del5

1 paper

NM_007294.4

p.I1432delFs

c.4294delT

1 paper

NM_007294.4

p.S1428_S1431del4

c.4282_4292del12

4 papers

NM_007294.4

p.S1431fs

c.4291_4292fs