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

6 papers

NM_007294.4

p.V1116L

c.3346G>T

Surrounding Variants

8 papers

NM_007294.4

p.V1116L

c.3346G>C

1 paper

NM_007294.4

p.E1115delFs

c.3345delT

23 papers

NM_007294.4

p.E1114_E1115delFs

c.3342_3345del4

1 paper

NM_007294.4

p.E1115_V1116ins0

c.3344_3346dupAAG

3 papers

NM_007294.4

p.V1116G

c.3347T>G

8 papers

NM_007294.4

p.E1115_V1116del1

c.3344_3346delCTT

2 papers

NM_007294.4

p.E1115D

c.3345A>T

2 papers

NM_007294.4

p.E1115E

c.3345A>G

3 papers

NM_007294.4

p.E1115D

c.3345A>C

3 papers

NM_007294.4

p.E1115fs

c.3343_3344fs

1 paper

NM_007294.4

p.V1116V

c.3348A>T

1 paper

NM_007294.4

p.E1115V

c.3344A>T