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

46 papers

NM_007294.4

p.Q1281*

c.3841C>T

Surrounding Variants

1 paper

NM_007294.4

p.Q1281fs

c.3841_3842fs

5 papers

NM_007294.4

p.Q1281E

c.3841C>G

1 paper

NM_007294.4

p.A1279_S1280delFs

c.3837_3840del4

4 papers

NM_007294.4

p.S1280fs

c.3838_3839fs

1 paper

NM_007294.4

p.S1280delFs

c.3839delG

10 papers

NM_007294.4

p.Q1281P

c.3842A>C

3 papers

NM_007294.4

p.S1280_Q1281del1

c.3839_3841delGAG

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