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

15 papers

NM_007294.4

p.K719E

c.2155A>G

Surrounding Variants

9 papers

NM_007294.4

p.K719*

c.2155A>T

1 paper

NM_007294.4

p.E717_L718del2

c.2149_2153del6

3 papers

NM_007294.4

p.T715_K719Fs

c.2143_2155delinsTCTTTFs

3 papers

NM_007294.4

p.K719fs

c.2155_2156fs

1 paper

NM_007294.4

p.K719R

c.2156A>G

1 paper

NM_007294.4

p.K719T

c.2156A>C

3 papers

NM_007294.4

p.K719Fs

c.2156delinsCCFs

1 paper

NM_007294.4

p.L718R

c.2153T>G

1 paper

NM_007294.4

p.T715_L718delFs

c.2145_2152del8

2 papers

NM_007294.4

p.K719fs

c.2155_2156fs

36 papers

NM_007294.4

p.E720*

c.2158G>T

17 papers

NM_007294.4

p.K719insFs

c.2157dupA