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

3 papers

NM_007294.4

p.D189_T190insA

c.565_569ins3

Surrounding Variants

1 paper

NM_007294.4

p.D189fs

c.565_566fs

4 papers

NM_007294.4

p.D189Y

c.565G>T

1 paper

NM_007294.4

p.D189_T190ins10

c.565_569ins30

1 paper

NM_007294.4

p.D189H

c.565G>C

2 papers

NM_007294.4

p.D189N

c.565G>A

2 papers

NM_007294.4

p.S187_E188del2

c.559_563del6

2 papers

NM_007294.4

p.E188D

c.564A>T

1 paper

NM_007294.4

p.D189V

c.566A>T

2 papers

NM_007294.4

p.D189G

c.566A>G

2 papers

NM_007294.4

p.D189A

c.566A>C

2 papers

NM_007294.4

p.E188D

c.564A>C

1 paper

NM_007294.4

p.D189insFs

c.566_567insG