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

1 paper

NM_007294.4

p.P919fs

c.2755_2756fs

Surrounding Variants

13 papers

NM_007294.4

p.P919S

c.2755C>T

1 paper

NM_007294.4

p.P919_V920insT

c.2755_2759ins3

1 paper

NM_007294.4

p.K918_P919Fs

c.2753_2755delinsCAFs

3 papers

NM_007294.4

p.I917_K918del2

c.2749_2753del6

2 papers

NM_007294.4

p.S915_K918del4

c.2743_2753del12

8 papers

NM_007294.4

p.K918N

c.2754G>T

2 papers

NM_007294.4

p.K918fs

c.2752_2753fs

1 paper

NM_007294.4

p.K918_P919insFs

c.2754_2755insA

3 papers

NM_007294.4

p.K918N

c.2754G>C

1 paper

NM_007294.4

p.K918K

c.2754G>A

1 paper

NM_007294.4

p.K918delFs

c.2753delT

1 paper

NM_007294.4

p.K918delins

c.2753delinsA