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

4 papers

NM_007294.4

p.S157F

c.470C>T

Surrounding Variants

5 papers

NM_007294.4

p.S157C

c.470C>G

1 paper

NM_007294.4

p.S157insFs

c.469_470insT

1 paper

NM_007294.4

p.S157Y

c.470C>A

1 paper

NM_007294.4

p.L156_S157insFs

c.468_469ins11

8 papers

NM_007294.4

p.S157fs

c.469_470fs

1 paper

NM_007294.4

p.S157_N158insFs

c.471_472insA

3 papers

NM_007294.4

p.S157A

c.469T>G

8 papers

NM_007294.4

p.S157P

c.469T>C

5 papers

NM_007294.4

p.S157fs

c.469_470fs

3 papers

NM_007294.4

p.Q155_L156delFs

c.464_468del5

1 paper

NM_007294.4

p.Q155_L156del2

c.463_467del6

2 papers

NM_007294.4

p.L156L

c.468C>T