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.N144fs

c.430_431fs

Surrounding Variants

2 papers

NM_007294.4

p.N144Y

c.430A>T

1 paper

NM_007294.4

p.N144H

c.430A>C

1 paper

NM_007294.4

p.P142_E143del2

c.424_428del6

5 papers

NM_007294.4

p.E143D

c.429A>T

2 papers

NM_007294.4

p.N144I

c.431A>T

1 paper

NM_007294.4

p.N144S

c.431A>G

7 papers

NM_007294.4

p.E143D

c.429A>C

1 paper

NM_007294.4

p.N144insFs

c.431_432insT

2 papers

NM_007294.4

p.N144fs

c.430_431fs

4 papers

NM_007294.4

p.N144insFs

c.431dupA

1 paper

NM_007294.4

p.N144K

c.432T>G

2 papers

NM_007294.4

p.N144N

c.432T>C