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

7 papers

NM_007294.4

p.L147_Q148Splc

c.441+51T>C

Surrounding Variants

4 papers

NM_007294.4

p.L147_Q148Splc

c.441+52C>T

1 paper

NM_007294.4

p.L147_Q148Splc

c.441+53T>C

1 paper

NM_007294.4

p.L147_Q148Splc

c.441+55T>C

1 paper

NM_007294.4

p.L147_Q148Splc

c.441+43T>G

10 papers

NM_007294.4

p.L147_Q148Splc

c.441+41C>T

2 papers

NM_007294.4

p.L147_Q148Splc

c.441+63T>G

2 papers

NM_007294.4

p.L147_Q148Splc

c.441+38T>C

1 paper

NM_007294.4

p.L147_Q148Splc

c.441+65G>T

10 papers

NM_007294.4

p.L147_Q148Splc

c.441+36C>T

1 paper

NM_007294.4

p.L147_Q148Splc

c.441+67G>A

1 paper

NM_007294.4

p.L147_Q148Splc

c.441+34T>C

1 paper

NM_007294.4

p.L147_Q148Splc

c.441+68A>T