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

2 papers

NM_007294.4

p.Q1200R

c.3599A>G

Surrounding Variants

1 paper

NM_007294.4

p.Q1200L

c.3599A>T

3 papers

NM_007294.4

p.Q1200P

c.3599A>C

1 paper

NM_007294.4

p.L1186_A1199del14

c.3556_3596del42

50 papers

NM_007294.4

p.Q1200H

c.3600G>T

1 paper

NM_007294.4

p.Q1200_G1201insFs

c.3600_3601insTT

1 paper

NM_007294.4

p.Q1200fs

c.3598_3599fs

49 papers

NM_007294.4

p.Q1200H

c.3600G>C

2 papers

NM_007294.4

p.Q1200Q

c.3600G>A

4 papers

NM_007294.4

p.Q1200fs

c.3598_3599fs

1 paper

NM_007294.4

p.A1199_Q1200delins

c.3596_3599delinsC

62 papers

NM_007294.4

p.Q1200*

c.3598C>T

1 paper

NM_007294.4

p.L1198_A1199del2

c.3592_3596del6