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_000267.3

p.L2618fs

c.7852_7853fs

Surrounding Variants

5 papers

NM_001042492.3

p.L2639I

c.7915C>A

2 papers

NM_001042492.3

p.Y2640fs

c.7918_7919fs

4 papers

NM_001042492.3

p.R2637Q

c.7910G>A

NM_000267.3

p.R2616Q

c.7847G>A

1 paper

NM_000267.3

p.R2616_I2617insFs

c.7848_7851dup4

2 papers

NM_001042492.3

p.Y2640*

c.7920T>A

2 papers

NM_001042492.3

p.Y2640*

c.7920T>G

2 papers

NM_001042492.3

p.E2641insFs

c.7921dupG

1 paper

NM_001042492.3

p.E2641del1

c.7921_7922delGAA

1 paper

NM_001042492.3

p.R2637R

c.7909C>A

1 paper

NM_001042492.3

p.R2637fs

c.7909_7910fs

53 papers

NM_000267.3

p.R2616*

c.7846C>T

NM_001042492.3

p.R2637*

c.7909C>T

1 paper

NM_001042492.3

p.E2641K

c.7921G>A