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

53 papers

NM_000267.3

p.R2616*

c.7846C>T

NM_001042492.3

p.R2637*

c.7909C>T

Surrounding Variants

1 paper

NM_001042492.3

p.R2637R

c.7909C>A

1 paper

NM_001042492.3

p.R2637fs

c.7909_7910fs

1 paper

NM_001042492.3

p.Q2636_R2637insFs

c.7908_7909insT

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

1 paper

NM_001042492.3

p.Q2636R

c.7907A>G

1 paper

NM_001042492.3

p.Q2636L

c.7907A>T

1 paper

NM_001042492.3

p.Q2636fs

c.7906_7907fs

3 papers

NM_000267.3

p.Q2615*

c.7843C>T

NM_001042492.3

p.Q2636*

c.7906C>T

1 paper

NM_001042492.3

p.Q2636_A2644delFs

c.7908_7932del25

1 paper

NM_000267.3

p.Q2615_Y2619delFs

c.7843_7855del13

5 papers

NM_001042492.3

p.L2639I

c.7915C>A