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

14 papers

NM_007294.4

p.P606delFs

c.1817delG

Surrounding Variants

4 papers

NM_007294.4

p.P606fs

c.1816_1817fs

1 paper

NM_007294.4

p.P606P

c.1818T>C

5 papers

NM_007294.4

p.P606L

c.1817C>T

1 paper

NM_007294.4

p.P606H

c.1817C>A

7 papers

NM_007294.4

p.K607*

c.1819A>T

7 papers

NM_007294.4

p.K607E

c.1819A>G

2 papers

NM_007294.4

p.K607Q

c.1819A>C

1 paper

NM_007297.4

p.P559del1

c.1675_1676delAGG

2 papers

NM_007294.4

p.K607fs

c.1819_1820fs

7 papers

NM_007294.4

p.P606fs

c.1816_1817fs

3 papers

NM_007294.4

p.P606S

c.1816C>T

1 paper

NM_007294.4

p.P606A

c.1816C>G