Varaico: Literature-Extracted Genetic Variants

HNF4A

904 papers

RefSeq Summary

The protein encoded by this gene is a nuclear transcription factor which binds DNA as a homodimer. The encoded protein controls the expression of several genes, including hepatocyte nuclear factor 1 a...

Pfam Domains

zf-C4aa 58–127UCSCDouble treble clef zinc finger, C4 type

Hormone_recepaa 172–361UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

hepatocyte nuclear factor 4 alpha

HGNC Previous Symbols

TCF14; MODY; MODY1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_175914.5

p.V66insFs

c.197dupT

Surrounding Variants

5 papers

NM_175914.5

p.S65N

c.194G>A

NM_000457.6

p.S87N

c.260G>A

1 paper

NM_000457.6

p.S87C

c.259A>T

1 paper

NM_175914.5

p.R67G

c.199C>G

7 papers

NM_175914.5

p.R67W

c.199C>T

NM_000457.6

p.R89W

c.265C>T

8 papers

NM_000457.6

p.R89Q

c.266G>A

NM_175914.5

p.R67Q

c.200G>A

1 paper

NM_175914.5

p.R64R

c.192G>A

1 paper

NM_175914.5

p.R64insFs

c.191_192insG

1 paper

NM_175914.5

p.K68T

c.203A>C

4 papers

NM_000457.6

p.R85Q

c.254G>A

NM_175914.5

p.R63Q

c.188G>A

1 paper

NM_175914.5

p.R63L

c.188G>T

1 paper

NM_175914.5

p.N69_H70insG

c.205_209ins3

1 paper

NM_175914.5

p.N69_M71delFs

c.207_211del5