Varaico: Literature-Extracted Genetic Variants

DIP2A

102 papers

RefSeq Summary

The protein encoded by this gene may be involved in axon patterning in the central nervous system. This gene is not highly expressed. Several transcript variants encoding different isoforms have been ...

Pfam Domains

DMAP_bindingaa 9–123UCSCDMAP1-binding Domain

AMP-bindingaa 339–760UCSCAMP-binding enzyme

AMP-bindingaa 991–1401UCSCAMP-binding enzyme

AMP-dom_DIP2-likeaa 1459–1566UCSCDisco-interacting protein 2-like, AMP domain

Gene Aliases

HGNC Name

disco interacting protein 2 homolog A

HGNC Previous Symbol

C21orf106

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015151.4

p.G477Splc

c.1429+2T>G

Surrounding Variants

1 paper

NM_015151.4

p.E471Q

c.1411G>C

1 paper

NM_015151.4

p.G463S

c.1387G>A

1 paper

NM_015151.4

p.G463R

c.1387G>C

1 paper

NM_015151.4

p.T457I

c.1370C>T

1 paper

NM_015151.4

p.W498delFs

c.1493_1494delGG

1 paper

NM_015151.4

p.H499_P500delFs

c.1497_1498delCC

1 paper

NM_015151.4

p.A502T

c.1504G>A

1 paper

NM_015151.4

p.E513_Y514Splc

c.1539+9T>C

1 paper

NM_015151.4

p.G524del1

c.1570_1571delGGG

1 paper

NM_015151.4

p.R537Q

c.1610G>A

2 papers

NM_015151.4

p.G417W

c.1249G>T

1 paper

NM_015151.4

p.V399fs

c.1195_1196fs