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

23 papers

NM_007294.4

p.R841Q

c.2522G>A

Surrounding Variants

1 paper

NM_007294.4

p.R841L

c.2522G>T

2 papers

NM_007294.4

p.R841P

c.2522G>C

1 paper

NM_007294.4

p.R841delFs

c.2521delG

1 paper

NM_007294.4

p.R841R

c.2523G>A

1 paper

NM_007294.4

p.R841fs

c.2521_2522fs

124 papers

NM_007294.4

p.R841W

c.2521C>T

1 paper

NM_007294.4

p.R841G

c.2521C>G

1 paper

NM_007294.4

p.H839_S840delFs

c.2516_2519del4

4 papers

NM_007294.4

p.E842*

c.2524G>T

2 papers

NM_007294.4

p.E842_T843insAG

c.2524_2528ins6

1 paper

NM_007294.4

p.E842Q

c.2524G>C

2 papers

NM_007294.4

p.E842K

c.2524G>A