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.D18D

c.54C>T

Surrounding Variants

1 paper

NM_001042492.3

p.D18E

c.54C>A

1 paper

NM_001042492.3

p.E19delFs

c.55delG

1 paper

NM_001042492.3

p.E19del1

c.55_56delGAG

1 paper

NM_001042492.3

p.E19_Q20del2

c.55_59del6

1 paper

NM_001042492.3

p.D18G

c.53A>G

1 paper

NM_001042492.3

p.D18_E19delFs

c.54_57del4

2 papers

NM_001042492.3

p.E19K

c.55G>A

1 paper

NM_001042492.3

p.E19fs

c.55_56fs

17 papers

NM_001042492.3

p.E19*

c.55G>T

1 paper

NM_001042492.3

p.E19delins

c.56delinsA

2 papers

NM_001042492.3

p.E19fs

c.55_56fs

1 paper

NM_001042492.3

p.E19A

c.56A>C