Varaico: Literature-Extracted Genetic Variants

SUPV3L1

10q22.1 (UCSC)OMIM PanelApp GTEx

45 papers

Pfam Domains

Suv3_Naa 62–179UCSCSuv3 helical N-terminal domain

DEXQc_Suv3aa 188–345UCSCDEXQ-box helicase domain of Suv3

Helicase_Caa 351–475UCSCHelicase conserved C-terminal domain

Suv3_C_1aa 556–598UCSCSuv3 C-terminal domain 1

SUV3_Caa 625–672UCSCATP-dependent RNA helicase SUV3 C-terminal domain

Gene Aliases

HGNC Name

Suv3 like RNA helicase

HGNC Previous Names

suppressor of var1 (S.cerevisiae) 3-like 1; suppressor of var1, 3-like 1 (S. cerevisiae)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003171.5

p.M519V

c.1555A>G

Surrounding Variants

1 paper

NM_003171.5

p.Y522C

c.1565A>G

1 paper

NM_003171.5

p.A507S

c.1519G>T

1 paper

NM_003171.5

p.R569G

c.1705C>G

1 paper

NM_003171.5

p.N580S

c.1739A>G

1 paper

NM_003171.5

p.Q466H

c.1398G>C

1 paper

NM_003171.5

p.Q466H

c.1398G>T

1 paper

NM_003171.5

p.I427V

c.1279A>G

1 paper

NM_003171.5

p.Q592_F593Splc

c.1777-1760G>A

1 paper

NM_003171.5

p.E391G

c.1172A>G

1 paper

NM_003171.5

p.R365W

c.1093C>T

1 paper

NM_003171.5

p.T349fs

c.1045_1046fs

1 paper

NM_003171.5

p.T349delFs

c.1046delC