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.E1107fs

c.3319_3320fs

Surrounding Variants

1 paper

NM_007294.4

p.E1107D

c.3321A>T

1 paper

NM_007294.4

p.E1107E

c.3321A>G

3 papers

NM_007294.4

p.E1107D

c.3321A>C

1 paper

NM_007294.4

p.I1108L

c.3322A>T

4 papers

NM_007294.4

p.E1107G

c.3320A>G

4 papers

NM_007294.4

p.I1108fs

c.3322_3323fs

2 papers

NM_007294.4

p.H1105_E1107del3

c.3313_3320del9

31 papers

NM_007294.4

p.E1107*

c.3319G>T

1 paper

NM_007294.4

p.E1107_I1108insCT

c.3319_3323ins6

1 paper

NM_007294.4

p.E1107Q

c.3319G>C

1 paper

NM_007294.4

p.E1107K

c.3319G>A

4 papers

NM_007294.4

p.P1106delFs

c.3317delG