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.E149K

c.445G>A

Surrounding Variants

6 papers

NM_007294.4

p.E149*

c.445G>T

1 paper

NM_007294.4

p.E149insFs

c.445_446insT

4 papers

NM_007294.4

p.E149Fs

c.445delinsAAFs

9 papers

NM_007294.4

p.Q148del1

c.442_444delCTG

3 papers

NM_007294.4

p.E149fs

c.445_446fs

1 paper

NM_007294.4

p.Q148H

c.444G>T

2 papers

NM_007294.4

p.Q148insFs

c.443_444insA

1 paper

NM_007294.4

p.Q148H

c.444G>C

2 papers

NM_007294.4

p.E149V

c.446A>T

3 papers

NM_007294.4

p.E149G

c.446A>G

25 papers

NM_007294.4

p.E149A

c.446A>C

1 paper

NM_007294.4

p.E149D

c.447A>T