Varaico: Literature-Extracted Genetic Variants

HNF1B

880 papers

RefSeq Summary

This gene encodes a member of the homeodomain-containing superfamily of transcription factors. The protein binds to DNA as either a homodimer, or a heterodimer with the related protein hepatocyte nucl...

Pfam Domains

HNF-1_Naa 8–174UCSCHepatocyte nuclear factor 1 (HNF-1), N terminus

HNF-1B_Caa 288–438UCSCHepatocyte nuclear factor 1 (HNF-1), beta isoform C terminus

Gene Aliases

HGNC Name

HNF1 homeobox B

HGNC Alias Symbols

LFB3; VHNF1; HNF1beta; MODY5; HNF1β

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000458.4

p.R310Q

c.929G>A

Surrounding Variants

2 papers

NM_000458.4

p.R310W

c.928C>T

1 paper

NM_000458.4

p.R310G

c.928C>G

7 papers

NM_000458.4

p.Q311*

c.931C>T

1 paper

NM_000458.4

p.A308_F309ins0

c.924_926dupATT

1 paper

NM_000458.4

p.A301_R310ins3

c.901_930dup30

1 paper

NM_000458.4

p.A308E

c.923C>A

1 paper

NM_000458.4

p.K312insFs

c.935dupA

1 paper

NM_000458.4

p.K312_L313Fs

c.935_937delinsAFs

1 paper

NM_000458.4

p.L313insFs

c.938dupT

3 papers

NM_000458.4

p.A314T

c.940G>A

1 paper

NM_000458.4

p.E306K

c.916G>A

1 paper

NM_000458.4

p.M315insFs

c.944_945insA