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.E507*

c.1519G>T

Surrounding Variants

1 paper

NM_004799.4

p.C515*

c.1545C>A

1 paper

NM_004799.4

p.T494S

c.1481C>G

1 paper

NM_004799.4

p.T494S

c.1480A>T

2 papers

NM_004799.4

p.F490S

c.1469T>C

1 paper

NM_004799.4

p.S475F

c.1424C>T

1 paper

NM_004799.4

p.G539G

c.1617T>C

1 paper

NM_004799.4

p.Y546C

c.1637A>G

1 paper

NM_004799.4

p.S556P

c.1666T>C

1 paper

NM_004799.4

p.S457I

c.1370G>T

1 paper

NM_004799.4

p.C453Y

c.1358G>A

1 paper

NM_004799.4

p.P563S

c.1687C>T

1 paper

NM_004799.4

p.K564R

c.1691A>G