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

3 papers

NM_001042492.3

p.L410R

c.1229T>G

Surrounding Variants

1 paper

NM_001042492.3

p.L410Q

c.1229T>A

4 papers

NM_001042492.3

p.L410P

c.1229T>C

1 paper

NM_001042492.3

p.L410delFs

c.1229delT

2 papers

NM_001042492.3

p.V411_N420del0

c.1231_1260del30

1 paper

NM_001042492.3

p.V411I

c.1231G>A

2 papers

NM_001042492.3

p.V411L

c.1231G>C

2 papers

NM_001042492.3

p.V411L

c.1231G>T

2 papers

NM_001042492.3

p.V409E

c.1226T>A

1 paper

NM_001042492.3

p.V411E

c.1232T>A

2 papers

NM_001042492.3

p.V409M

c.1225G>A

1 paper

NM_001042492.3

p.V409L

c.1225G>C

2 papers

NM_001042492.3

p.V409L

c.1225G>T