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.S741delFs

c.2223delA

Surrounding Variants

2 papers

NM_007294.4

p.N742D

c.2224A>G

3 papers

NM_007294.4

p.N742insFs

c.2224_2225insT

6 papers

NM_007294.4

p.N742S

c.2225A>G

1 paper

NM_007294.4

p.N742delFs

c.2225delT

16 papers

NM_007294.4

p.S741F

c.2222C>T

10 papers

NM_007294.4

p.S741C

c.2222C>G

3 papers

NM_007294.4

p.S741Y

c.2222C>A

1 paper

NM_007294.4

p.S741ins4

c.2221_2222ins12

4 papers

NM_007294.4

p.S741P

c.2221T>C

1 paper

NM_007294.4

p.E732_V740delFs

c.2195_2220del26

1 paper

NM_007294.4

p.S741fs

c.2221_2222fs

1 paper

NM_007294.4

p.N743Y

c.2227A>T