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

5 papers

NM_007294.4

p.Q1395_Q1396Splc

c.4186-1G>A

Surrounding Variants

5 papers

NM_007294.4

p.Q1396fs

c.4186_4187fs

20 papers

NM_007294.4

p.Q1396*

c.4186C>T

2 papers

NM_007294.4

p.Q1396E

c.4186C>G

4 papers

NM_007294.4

p.Q1396K

c.4186C>A

11 papers

NM_007294.4

p.Q1395_Q1396Splc

c.4186-2A>G

7 papers

NM_007294.4

p.Q1396R

c.4187A>G

1 paper

NM_007294.4

p.Q1396P

c.4187A>C

1 paper

NM_007294.4

p.Q1396H

c.4188G>T

1 paper

NM_007294.4

p.Q1396H

c.4188G>C

1 paper

NM_007294.4

p.R1397fs

c.4189_4190fs

1 paper

NM_007294.4

p.R1397W

c.4189A>T

1 paper

NM_007294.4

p.R1397G

c.4189A>G