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.S1280_Q1281delFs

c.3839_3843del5

Surrounding Variants

3 papers

NM_007294.4

p.E1282*

c.3844G>T

3 papers

NM_007294.4

p.E1282insFs

c.3844_3845insCG

2 papers

NM_007294.4

p.E1282K

c.3844G>A

1 paper

NM_007294.4

p.Q1281del1

c.3841_3842delCTG

1 paper

NM_007294.4

p.S1280_Q1281del2

c.3838_3842del6

2 papers

NM_007294.4

p.E1282fs

c.3844_3845fs

3 papers

NM_007297.4

p.Q1234H

c.3702G>T

NM_007294.4

p.Q1281H

c.3843G>T

3 papers

NM_007297.4

p.Q1234H

c.3702G>C

NM_007294.4

p.Q1281H

c.3843G>C

2 papers

NM_007294.4

p.Q1281Q

c.3843G>A

2 papers

NM_007294.4

p.Q1281delFs

c.3841_3842delTG

18 papers

NM_007294.4

p.S1280_Q1281Fs

c.3839_3843delinsAGGCFs

16 papers

NM_007294.4

p.E1282V

c.3845A>T