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.S642R

c.1926C>G

Surrounding Variants

1 paper

NM_003171.5

p.S642R

c.1926C>A

1 paper

NM_003171.5

p.S642R

c.1924A>C

1 paper

NM_003171.5

p.H632Q

c.1896C>A

1 paper

NM_003171.5

p.H632Q

c.1896C>G

1 paper

NM_003171.5

p.I665F

c.1993A>T

2 papers

NM_003171.5

p.P692L

c.2075C>T

1 paper

NM_003171.5

p.L716R

c.2147T>G

1 paper

NM_003171.5

p.A728E

c.2183C>A

2 papers

NM_003171.5

p.Q739*

c.2215C>T

1 paper

NM_003171.5

p.H772R

c.2315A>G

1 paper

NM_003171.5

p.E782K

c.2344G>A

1 paper

NM_003171.5

p.Q592_F593Splc

c.1777-1760G>A