Varaico: Literature-Extracted Genetic Variants

NF1

4,584 papers

RefSeq Summary

This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leuke...

Pfam Domains

RasGAPaa 1325–1451UCSCGTPase-activator protein for Ras-like GTPase

CRAL_TRIO_2aa 1602–1736UCSCDivergent CRAL/TRIO domain

PH_NF1aa 1737–1831UCSCPH domain-like

Gene Aliases

HGNC Name

neurofibromin 1

HGNC Alias Names

neurofibromatosis; von Recklinghausen disease; Watson disease

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001042492.3

p.R1325Splc

c.3974+2T>G

Surrounding Variants

2 papers

NM_001042492.3

p.R1325Splc

c.3974+2T>C

4 papers

NM_001042492.3

p.R1325Splc

c.3974+1G>A

5 papers

NM_001042492.3

p.R1325Splc

c.3974+1G>C

3 papers

NM_001042492.3

p.R1325Splc

c.3974+1G>T

9 papers

NM_001042492.3

p.R1325K

c.3974G>A

6 papers

NM_001042492.3

p.R1325T

c.3974G>C

1 paper

NM_001042492.3

p.R1325ins8

c.3974_3975ins24

2 papers

NM_001042492.3

p.R1325M

c.3974G>T

2 papers

NM_001042492.3

p.R1325G

c.3973A>G

1 paper

NM_001042492.3

p.R1325W

c.3973A>T

1 paper

NM_001042492.3

p.R1325delFs

c.3974delG

3 papers

NM_001042492.3

p.R1325fs

c.3973_3974fs