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.E235G

c.704A>G

Surrounding Variants

1 paper

NM_175914.5

p.E235Q

c.703G>C

1 paper

NM_175914.5

p.E235D

c.705G>T

1 paper

NM_175914.5

p.P234fs

c.700_701fs

1 paper

NM_175914.5

p.C233W

c.699C>G

1 paper

NM_000457.6

p.A259T

c.775G>A

1 paper

NM_000457.6

p.A259E

c.776C>A

1 paper

NM_175914.5

p.C233S

c.698G>C

1 paper

NM_175914.5

p.A237A

c.711G>A

1 paper

NM_175914.5

p.C233S

c.697T>A

6 papers

NM_175914.5

p.C233R

c.697T>C

1 paper

NM_175914.5

p.E238delFs

c.713delA

1 paper

NM_001287183.2

p.H229Y

c.685C>T