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.L1084F

c.3250C>T

Surrounding Variants

1 paper

NM_007294.4

p.L1084_R1085insAC

c.3250_3254ins6

3 papers

NM_007294.4

p.L1084I

c.3250C>A

3 papers

NM_007294.4

p.L1084P

c.3251T>C

1 paper

NM_007294.4

p.L1084H

c.3251T>A

3 papers

NM_007294.4

p.M1083I

c.3249G>T

1 paper

NM_007294.4

p.M1083fs

c.3247_3248fs

3 papers

NM_007294.4

p.M1083I

c.3249G>C

3 papers

NM_007294.4

p.M1083I

c.3249G>A

1 paper

NM_007294.4

p.L1084fs

c.3250_3251fs

5 papers

NM_007294.4

p.M1083T

c.3248T>C

5 papers

NM_007294.4

p.M1083_L1084delFs

c.3247_3251del5

1 paper

NM_007294.4

p.A1082_M1083delFs

c.3244_3247del4