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.S1057R

c.3171T>G

Surrounding Variants

2 papers

NM_007294.4

p.S1057_I1058insFs

c.3171_3172insC

1 paper

NM_007294.4

p.S1057fs

c.3169_3170fs

1 paper

NM_007294.4

p.S1057_I1058insFs

c.3171_3172insA

1 paper

NM_007294.4

p.S1057S

c.3171T>C

3 papers

NM_007294.4

p.S1057R

c.3171T>A

5 papers

NM_007294.4

p.S1056_S1057delFs

c.3167_3170del4

1 paper

NM_007294.4

p.I1058fs

c.3172_3173fs

2 papers

NM_007294.4

p.S1057I

c.3170G>T

2 papers

NM_007294.4

p.S1057T

c.3170G>C

4 papers

NM_007294.4

p.S1057N

c.3170G>A

4 papers

NM_007294.4

p.I1058V

c.3172A>G

1 paper

NM_007294.4

p.I1058L

c.3172A>C