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

2 papers

NM_001042492.3

p.K191fs

c.571_572fs

Surrounding Variants

6 papers

NM_001042492.3

p.K191fs

c.571_572fs

1 paper

NM_001042492.3

p.K191*

c.571A>T

2 papers

NM_001042492.3

p.K191insFs

c.572_573insC

7 papers

NM_001042492.3

p.K191T

c.572A>C

2 papers

NM_001042492.3

p.L190F

c.570A>C

3 papers

NM_001042492.3

p.L190F

c.570A>T

7 papers

NM_001042492.3

p.L190*

c.569T>A

1 paper

NM_001042492.3

p.L190S

c.569T>C

6 papers

NM_001042492.3

p.L190*

c.569T>G

3 papers

NM_001042492.3

p.K191delFs

c.573delA

2 papers

NM_001042492.3

p.R192fs

c.574_575fs

1 paper

NM_001042492.3

p.R192G

c.574C>G