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

1–12 of 45 variants

2 papers

NM_003171.5

p.G207V

c.620G>T

2 papers

NM_003171.5

p.P692L

c.2075C>T

2 papers

NM_003171.5

p.Q739*

c.2215C>T

1 paper

NM_003171.5

p.S2P

c.4T>C

1 paper

NM_003171.5

p.F3ins3

c.7_8ins9

1 paper

NM_003171.5

p.A27S

c.79G>T

1 paper

NM_003171.5

p.P30T

c.88C>A

1 paper

NM_003171.5

p.P30L

c.89C>T

1 paper

NM_003171.5

p.A46T

c.136G>A

1 paper

NM_003171.5

p.K57R

c.170A>G

1 paper

NM_003171.5

p.T85T

c.255C>A

1 paper

NM_003171.5

p.K90ins16

c.268_269ins48