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.L1539L

c.4617G>T

Surrounding Variants

2 papers

NM_007294.4

p.L1539insFs

c.4616dupT

8 papers

NM_007294.4

p.L1539P

c.4616T>C

8 papers

NM_007300.4

p.E1561*

c.4681G>T

NM_007294.4

p.E1540*

c.4618G>T

1 paper

NM_007294.4

p.E1540K

c.4618G>A

1 paper

NM_007294.4

p.E1540fs

c.4618_4619fs

3 papers

NM_007294.4

p.L1539L

c.4615C>T

1 paper

NM_007294.4

p.L1539M

c.4615C>A

3 papers

NM_007294.4

p.Q1538_L1539delins

c.4614_4615delinsTT

1 paper

NM_007294.4

p.E1540G

c.4619A>G

1 paper

NM_007294.4

p.E1540A

c.4619A>C

4 papers

NM_007294.4

p.Q1538H

c.4614G>T

1 paper

NM_007294.4

p.Q1538fs

c.4612_4613fs