Varaico: Literature-Extracted Genetic Variants

RASGRP1

113 papers

RefSeq Summary

This gene is a member of a family of genes characterized by the presence of a Ras superfamily guanine nucleotide exchange factor (GEF) domain. It functions as a diacylglycerol (DAG)-regulated nucleoti...

Pfam Domains

RasGEF_Naa 57–153UCSCRasGEF N-terminal motif

RasGEFaa 208–384UCSCRasGEF domain

C1_1aa 542–594UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)

Gene Aliases

HGNC Name

RAS guanyl releasing protein 1

HGNC Alias Symbol

CalDAG-GEFII

Papers

RefSeq ID

Protein change

DNA change

1–12 of 96 variants

5 papers

NM_005739.4

p.R246*

c.736C>T

4 papers

NM_005739.4

p.W257*

c.771G>A

3 papers

NM_005739.4

p.P242P

c.726C>T

3 papers

NM_005739.4

p.W257*

c.770G>A

2 papers

NM_005739.4

p.T214I

c.641C>T

2 papers

NM_005739.4

p.S225L

c.674C>T

2 papers

NM_005739.4

p.S314L

c.941C>T

2 papers

NM_005739.4

p.K322*

c.964A>T

2 papers

NM_005739.4

p.R341Q

c.1022G>A

2 papers

NM_005739.4

p.T414T

c.1242G>A

2 papers

NM_005739.4

p.E637insFs

c.1910_1911insAG

2 papers

NM_005739.4

p.W727*

c.2180G>A