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

13 papers

NM_007294.4

p.R1028_R1032delFs

c.3084_3094del11

Surrounding Variants

1 paper

NM_007294.4

p.R1032T

c.3095G>C

2 papers

NM_007294.4

p.R1032K

c.3095G>A

1 paper

NM_007294.4

p.I1031del1

c.3091_3092delAAT

1 paper

NM_007294.4

p.I1031delFs

c.3092delA

1 paper

NM_007294.4

p.R1032fs

c.3094_3095fs

1 paper

NM_007294.4

p.I1031I

c.3093T>A

9 papers

NM_007294.4

p.E1033*

c.3097G>T

1 paper

NM_007294.4

p.E1033Q

c.3097G>C

6 papers

NM_007294.4

p.E1033K

c.3097G>A

1 paper

NM_007294.4

p.R1032delFs

c.3096delT

1 paper

NM_007294.4

p.S1027_R1032del6

c.3079_3095del18

1 paper

NM_007294.4

p.E1033fs

c.3097_3098fs