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.R64insFs

c.191_192insG

Surrounding Variants

4 papers

NM_000457.6

p.R85Q

c.254G>A

NM_175914.5

p.R63Q

c.188G>A

1 paper

NM_175914.5

p.R64R

c.192G>A

1 paper

NM_175914.5

p.R63L

c.188G>T

1 paper

NM_000457.6

p.S87C

c.259A>T

1 paper

NM_175914.5

p.R63R

c.187C>A

35 papers

NM_175914.5

p.R63W

c.187C>T

NM_000457.6

p.R85W

c.253C>T

NM_001258355.2

p.R78W

c.232C>T

5 papers

NM_175914.5

p.S65N

c.194G>A

NM_000457.6

p.S87N

c.260G>A

1 paper

NM_175914.5

p.F62S

c.185T>C

1 paper

NM_175914.5

p.V66insFs

c.197dupT

1 paper

NM_175914.5

p.F62delFs

c.184delT

2 papers

NM_000457.6

p.F83C

c.248T>G

NM_175914.5

p.F61C

c.182T>G

1 paper

NM_175914.5

p.R67G

c.199C>G