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.L1664I

c.4990C>A

Surrounding Variants

6 papers

NM_007294.4

p.L1664F

c.4990C>T

6 papers

NM_007294.4

p.L1664V

c.4990C>G

6 papers

NM_007294.4

p.L1664R

c.4991T>G

43 papers

NM_007294.4

p.L1664P

c.4991T>C

6 papers

NM_007294.4

p.L1664H

c.4991T>A

1 paper

NM_007294.4

p.M1663_L1664delFs

c.4987_4990del4

7 papers

NM_007294.4

p.M1663I

c.4989G>T

1 paper

NM_007294.4

p.M1663fs

c.4987_4988fs

7 papers

NM_007294.4

p.M1663I

c.4989G>C

7 papers

NM_007294.4

p.M1663I

c.4989G>A

4 papers

NM_007294.4

p.M1663R

c.4988T>G

6 papers

NM_007294.4

p.M1663T

c.4988T>C