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

42 papers

NM_000458.4

p.S148L

c.443C>T

Surrounding Variants

19 papers

NM_000458.4

p.S148W

c.443C>G

1 paper

NM_000458.4

p.S148P

c.442T>C

2 papers

NM_000458.4

p.S148S

c.444G>A

3 papers

NM_000458.4

p.Q147H

c.441G>T

2 papers

NM_000458.4

p.Q147H

c.441G>C

4 papers

NM_000458.4

p.H149N

c.445C>A

6 papers

NM_000458.4

p.Q147*

c.439C>T

3 papers

NM_000458.4

p.Q147E

c.439C>G

1 paper

NM_000458.4

p.L150P

c.449T>C

1 paper

NM_000458.4

p.L145_L150del0

c.435_449del15

3 papers

NM_000458.4

p.N146D

c.436A>G

11 papers

NM_000458.4

p.S151P

c.451T>C