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.S49C

c.146C>G

Surrounding Variants

1 paper

NM_000458.4

p.S49F

c.146C>T

3 papers

NM_000458.4

p.L48fs

c.142_143fs

1 paper

NM_000458.4

p.L48L

c.144G>C

4 papers

NM_000458.4

p.L48delFs

c.143delA

4 papers

NM_000458.4

p.P50S

c.148C>T

1 paper

NM_000458.4

p.P50A

c.148C>G

1 paper

NM_000458.4

p.P50delFs

c.149delG

1 paper

NM_000458.4

p.G51D

c.152G>A

1 paper

NM_000458.4

p.P47L

c.140C>T

1 paper

NM_000458.4

p.P47S

c.139C>T

1 paper

NM_000458.4

p.L46delFs

c.138delC

1 paper

NM_000458.4

p.S52T

c.155G>C