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.F603L

c.1809T>G

Surrounding Variants

1 paper

NM_004799.4

p.F603L

c.1809T>A

1 paper

NM_004799.4

p.F603L

c.1807T>C

1 paper

NM_004799.4

p.S596*

c.1787C>A

1 paper

NM_004799.4

p.S596*

c.1787C>G

1 paper

NM_004799.4

p.L623*

c.1868T>A

1 paper

NM_004799.4

p.L623*

c.1868T>G

1 paper

NM_004799.4

p.K582N

c.1746G>T

1 paper

NM_004799.4

p.E625_N626insTG

c.1873_1877ins6

1 paper

NM_004799.4

p.P581A

c.1741C>G

1 paper

NM_004799.4

p.S627A

c.1879T>G

1 paper

NM_004799.4

p.S627*

c.1880C>A

1 paper

NM_004799.4

p.S627*

c.1880C>G