Varaico: Literature-Extracted Genetic Variants

SALL2

65 papers

RefSeq Summary

This gene encodes a protein containing multiple zinc finger domains. The encoded protein functions in optical fissure closure during development of the eye in the embryo. Mutations in this gene are as...

Pfam Domains

zf-C2H2aa 264–286UCSCZinc finger, C2H2 type

zf-C2H2aa 522–544UCSCZinc finger, C2H2 type

zf-C2H2aa 555–576UCSCZinc finger, C2H2 type

zf-C2H2_6aa 775–799UCSCC2H2-type zinc finger

Gene Aliases

HGNC Name

spalt like transcription factor 2

HGNC Alias Symbols

KIAA0360; Hsal2; ZNF795

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_001364564.1

p.P840R

c.2519C>G

Surrounding Variants

1 paper

NM_005407.3

p.P869L

c.2606C>T

1 paper

NM_005407.3

p.S806A

c.2416T>G

1 paper

NM_005407.3

p.S802A

c.2404T>G

1 paper

NM_001364564.1

p.L888W

c.2663T>G

1 paper

NM_001364564.1

p.K792E

c.2374A>G

1 paper

NM_005407.3

p.G792R

c.2374G>C

1 paper

NM_001364564.1

p.G783_G785del3

c.2347_2354del9

1 paper

NM_001364564.1

p.R784_G785insFs

c.2352_2353insC

1 paper

NM_005407.3

p.T778A

c.2332A>G

1 paper

NM_005407.3

p.S763A

c.2287T>G

1 paper

NM_001364564.1

p.R744R

c.2232G>A

1 paper

NM_001364564.1

p.R744G

c.2230C>G