Varaico: Literature-Extracted Genetic Variants

SRPX2

81 papers

RefSeq Summary

This gene encodes a secreted protein that contains three sushi repeat motifs. The encoded protein may play a role in the development of speech and language centers in the brain. This protein may also ...

Pfam Domains

Sushiaa 59–117UCSCSushi repeat (SCR repeat)

Sushiaa 122–176UCSCSushi repeat (SCR repeat)

HYRaa 177–259UCSCHYR domain

Sushiaa 264–319UCSCSushi repeat (SCR repeat)

DUF4174aa 334–453UCSCDomain of unknown function (DUF4174)

Gene Aliases

HGNC Name

sushi repeat containing protein X-linked 2

HGNC Alias Symbol

SRPUL

Papers

RefSeq ID

Protein change

DNA change

1–12 of 79 variants

15 papers

NM_014467.3

p.N327S

c.980A>G

12 papers

NM_014467.3

p.Y72S

c.215A>C

3 papers

NM_014467.3

p.R86H

c.257G>A

2 papers

NM_014467.3

p.P187L

c.560C>T

2 papers

NM_014467.3

p.G295S

c.883G>A

2 papers

NM_014467.3

p.P321Splc

c.961+1G>A

2 papers

NM_014467.3

p.R410H

c.1229G>A

2 papers

NM_014467.3

p.R413C

c.1237C>T

1 paper

NM_014467.3

p.M1insFs

c.2dupT

1 paper

NM_014467.3

p.Q4L

c.11A>T

1 paper

NM_014467.3

p.L5_R8ins1

c.15_23dup9

1 paper

NM_014467.3

p.A10D

c.29C>A