Varaico: Literature-Extracted Genetic Variants

ZFYVE9

170 papers

RefSeq Summary

This gene encodes a double zinc finger motif-containing protein that participates in the transforming growth factor-beta (TGFB) signalling pathway. The encoded protein interacts directly with SMAD2 an...

Pfam Domains

FYVEaa 695–759UCSCFYVE zinc finger

SARAaa 773–811UCSCSmad anchor for receptor activation (SARA)

SARA_Caa 1048–1400UCSCSmad anchor for receptor activation-like, C-terminal

Gene Aliases

HGNC Name

zinc finger FYVE-type containing 9

HGNC Previous Symbol

MADHIP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004799.4

p.L404M

c.1210T>A

Surrounding Variants

1 paper

NM_004799.4

p.W402*

c.1206G>A

1 paper

NM_004799.4

p.W402*

c.1205G>A

1 paper

NM_004799.4

p.D412G

c.1235A>G

1 paper

NM_004799.4

p.H392R

c.1175A>G

1 paper

NM_004799.4

p.I425I

c.1275T>C

1 paper

NM_004799.4

p.A369_D370delFs

c.1106_1110del5

1 paper

NM_004799.4

p.C439F

c.1316G>T

1 paper

NM_004799.4

p.V367F

c.1099G>T

1 paper

NM_004799.4

p.A443V

c.1328C>T

3 papers

NM_004799.4

p.G446S

c.1336G>A

1 paper

NM_004799.4

p.G446G

c.1338T>C

1 paper

NM_004799.4

p.L447I

c.1339C>A