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

2 papers

NM_007294.4

p.E181G

c.542A>G

Surrounding Variants

1 paper

NM_007294.4

p.E181V

c.542A>T

1 paper

NM_007294.4

p.E181A

c.542A>C

4 papers

NM_007294.4

p.E181*

c.541G>T

3 papers

NM_007294.4

p.E181K

c.541G>A

2 papers

NM_007294.4

p.I180delFs

c.539delA

4 papers

NM_007294.4

p.E181D

c.543A>T

4 papers

NM_007294.4

p.E181D

c.543A>C

2 papers

NM_007294.4

p.L182V

c.544T>G

2 papers

NM_007294.4

p.L182M

c.544T>A

3 papers

NM_007294.4

p.I180delFs

c.538_539delAT

1 paper

NM_007294.4

p.I171_Y179del9

c.511_536del27

1 paper

NM_007294.4

p.E181delFs

c.542delT