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.I1707V

c.5119A>G

Surrounding Variants

3 papers

NM_007294.4

p.I1707F

c.5119A>T

4 papers

NM_007294.4

p.I1707L

c.5119A>C

5 papers

NM_007294.4

p.I1707S

c.5120T>G

8 papers

NM_007294.4

p.I1707T

c.5120T>C

3 papers

NM_007294.4

p.I1707N

c.5120T>A

4 papers

NM_007294.4

p.G1706_I1707delFs

c.5116_5119del4

1 paper

NM_007294.4

p.G1706G

c.5118A>T

1 paper

NM_007294.4

p.G1706G

c.5118A>G

1 paper

NM_007300.4

p.L1726_G1727delFs

c.5177_5180del4

3 papers

NM_007294.4

p.I1707M

c.5121T>G

2 papers

NM_007294.4

p.G1706_I1707del1

c.5118_5120delATT

5 papers

NM_007300.4

p.G1727V

c.5180G>T

NM_007294.4

p.G1706V

c.5117G>T