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

35 papers

NM_007294.4

p.F1695L

c.5085T>A

Surrounding Variants

2 papers

NM_007294.4

p.F1695fs

c.5083_5084fs

34 papers

NM_007294.4

p.F1695L

c.5085T>G

1 paper

NM_007294.4

p.E1694_F1695delFs

c.5081_5084del4

1 paper

NM_007294.4

p.F1695insFs

c.5084_5085insG

5 papers

NM_007294.4

p.F1695C

c.5084T>G

4 papers

NM_007294.4

p.F1695S

c.5084T>C

5 papers

NM_007294.4

p.F1695Y

c.5084T>A

24 papers

NM_007294.4

p.V1696L

c.5086G>T

5 papers

NM_007294.4

p.F1695insFs

c.5085dupT

1 paper

NM_007294.4

p.V1696insFs

c.5086_5087insA

25 papers

NM_007294.4

p.V1696L

c.5086G>C

9 papers

NM_007294.4

p.V1696M

c.5086G>A