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.S209A

c.625T>G

Surrounding Variants

1 paper

NM_004799.4

p.S209P

c.625T>C

1 paper

NM_004799.4

p.S209insFs

c.625_626insTG

1 paper

NM_004799.4

p.M207T

c.620T>C

1 paper

NM_004799.4

p.E204fs

c.610_611fs

1 paper

NM_004799.4

p.L216*

c.647T>A

1 paper

NM_004799.4

p.L216F

c.648G>C

1 paper

NM_004799.4

p.L216F

c.648G>T

1 paper

NM_004799.4

p.P219R

c.656C>G

1 paper

NM_004799.4

p.Q194P

c.581A>C

1 paper

NM_004799.4

p.D193_S196delFs

c.577_586del10

1 paper

NM_004799.4

p.N189Y

c.565A>T

1 paper

NM_004799.4

p.L229R

c.686T>G