Varaico: Literature-Extracted Genetic Variants

SVEP1

9q31.3 (UCSC)OMIM GTEx

243 papers

Pfam Domains

VWAaa 83–258UCSCvon Willebrand factor type A domain

Ephrin_rec_likeaa 310–360UCSCTyrosine-protein kinase ephrin type A/B receptor-like

Sushiaa 378–433UCSCSushi repeat (SCR repeat)

Sushiaa 438–493UCSCSushi repeat (SCR repeat)

Sushiaa 498–559UCSCSushi repeat (SCR repeat)

HYRaa 560–642UCSCHYR domain

Gene Aliases

HGNC Name

sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1

HGNC Previous Symbol

C9orf13

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_153366.4

p.A2750A

c.8250A>G

Surrounding Variants

1 paper

NM_153366.4

p.A2750delins

c.8249_8250delinsTG

8 papers

NM_153366.4

p.A2750V

c.8249C>T

1 paper

NM_153366.4

p.R2761T

c.8282G>C

1 paper

NM_153366.4

p.K2777insFs

c.8330dupA

1 paper

NM_153366.4

p.V2781I

c.8341G>A

1 paper

NM_153366.4

p.T2796M

c.8387C>T

12 papers

NM_153366.4

p.D2702G

c.8105A>G

1 paper

NM_153366.4

p.C2699F

c.8096G>T

1 paper

NM_153366.4

p.N2694D

c.8080A>G

1 paper

NM_153366.4

p.K2665fs

c.7993_7994fs

1 paper

NM_153366.4

p.D2638A

c.7913A>C

1 paper

NM_153366.4

p.G2632E

c.7895G>A