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

6 papers

NM_007294.4

p.K701*

c.2101A>T

Surrounding Variants

5 papers

NM_007297.4

p.K654fs

c.1960_1961fs

NM_007294.4

p.K701fs

c.2101_2102fs

2 papers

NM_007294.4

p.K701E

c.2101A>G

1 paper

NM_007294.4

p.K701_L702insTG

c.2101_2105ins6

2 papers

NM_007294.4

p.L700fs

c.2098_2099fs

1 paper

NM_007294.4

p.L700delFs

c.2098_2099delAG

2 papers

NM_007294.4

p.K701R

c.2102A>G

1 paper

NM_007294.4

p.L700_K701delFs

c.2098_2101del4

2 papers

NM_007294.4

p.L700P

c.2099T>C

1 paper

NM_007294.4

p.L700Q

c.2099T>A

2 papers

NM_007294.4

p.K701fs

c.2101_2102fs

1 paper

NM_007294.4

p.K701N

c.2103G>C

5 papers

NM_007297.4

p.K654delFs

c.1961delT

NM_007294.4

p.K701delFs

c.2102delT