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

8 papers

NM_001042492.3

p.Q162*

c.484C>T

Surrounding Variants

2 papers

NM_001042492.3

p.Q162K

c.484C>A

1 paper

NM_001042492.3

p.Q162_E163insAT

c.484_488ins6

2 papers

NM_001042492.3

p.Q162E

c.484C>G

1 paper

NM_001042492.3

p.L161F

c.483A>C

1 paper

NM_001042492.3

p.L161F

c.483A>T

2 papers

NM_001042492.3

p.E163delFs

c.487delG

9 papers

NM_001042492.3

p.L161*

c.482T>A

1 paper

NM_001042492.3

p.L161S

c.482T>C

7 papers

NM_001042492.3

p.L161*

c.482T>G

1 paper

NM_001042492.3

p.L161insFs

c.482_483insC

1 paper

NM_001042492.3

p.L161delFs

c.483delA

1 paper

NM_001042492.3

p.Q162_E163del2

c.484_488del6