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

5 papers

NM_007294.4

p.L1086delFs

c.3258delT

Surrounding Variants

1 paper

NM_007294.4

p.G1087R

c.3259G>C

1 paper

NM_007294.4

p.G1087R

c.3259G>A

1 paper

NM_007294.4

p.L1086del1

c.3256_3257delTAA

1 paper

NM_007294.4

p.R1085_L1086del2

c.3253_3257del6

7 papers

NM_007294.4

p.G1087A

c.3260G>C

2 papers

NM_007294.4

p.G1087E

c.3260G>A

2 papers

NM_007294.4

p.L1086insFs

c.3257dupT

3 papers

NM_007294.4

p.L1086fs

c.3256_3257fs

5 papers

NM_007294.4

p.L1086delFs

c.3257delA

1 paper

NM_007294.4

p.L1086delFs

c.3256_3257delAA

55 papers

NM_007294.4

p.L1086*

c.3257T>G

6 papers

NM_007294.4

p.L1086S

c.3257T>C