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

1 paper

NM_001042492.3

p.E1436D

c.4308A>C

Surrounding Variants

1 paper

NM_001042492.3

p.G1438insFs

c.4313dupG

1 paper

NM_001042492.3

p.R1437fs

c.4309_4310fs

2 papers

NM_001042492.3

p.E1436G

c.4307A>G

6 papers

NM_001042492.3

p.E1436K

c.4306G>A

1 paper

NM_001042492.3

p.E1436fs

c.4306_4307fs

4 papers

NM_001042492.3

p.E1436*

c.4306G>T

NM_000267.3

p.E1415*

c.4243G>T

2 papers

NM_001042492.3

p.E1436delFs

c.4308delA

1 paper

NM_001042492.3

p.I1435I

c.4305C>T

1 paper

NM_001042492.3

p.E1436_K1440delFs

c.4308_4318del11

5 papers

NM_001042492.3

p.G1438del1

c.4312_4314delGGC

3 papers

NM_001042492.3

p.G1438S

c.4312G>A

1 paper

NM_001042492.3

p.G1438R

c.4312G>C