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.S1331T

c.3992G>C

Surrounding Variants

1 paper

NM_001042492.3

p.S1331N

c.3992G>A

3 papers

NM_001042492.3

p.S1331fs

c.3991_3992fs

1 paper

NM_001042492.3

p.S1331G

c.3991A>G

1 paper

NM_001042492.3

p.L1332fs

c.3994_3995fs

1 paper

NM_001042492.3

p.L1332delFs

c.3996delT

2 papers

NM_001042492.3

p.E1330A

c.3989A>C

1 paper

NM_001042492.3

p.L1332P

c.3995T>C

1 paper

NM_001042492.3

p.E1330K

c.3988G>A

2 papers

NM_001042492.3

p.E1330Q

c.3988G>C

1 paper

NM_001042492.3

p.E1330*

c.3988G>T

1 paper

NM_001042492.3

p.E1330fs

c.3988_3989fs

1 paper

NM_001042492.3

p.E1330delins

c.3988_3990delinsTAA