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.E109fs

c.325_326fs

Surrounding Variants

1 paper

NM_000458.4

p.V110_D111insC

c.328_332ins3

4 papers

NM_000458.4

p.V110G

c.329T>G

1 paper

NM_000458.4

p.V110A

c.329T>C

1 paper

NM_000458.4

p.E109fs

c.325_326fs

1 paper

NM_000458.4

p.V110V

c.330G>T

2 papers

NM_000458.4

p.A108fs

c.322_323fs

3 papers

NM_000458.4

p.A108delFs

c.322delC

1 paper

NM_000458.4

p.A108S

c.322G>T

1 paper

NM_000458.4

p.A108P

c.322G>C

1 paper

NM_000458.4

p.A108T

c.322G>A

1 paper

NM_000458.4

p.R112fs

c.334_335fs

1 paper

NM_000458.4

p.R112W

c.334C>T