Varaico: Literature-Extracted Genetic Variants

TGM6

162 papers

RefSeq Summary

The protein encoded by this gene belongs to the transglutaminase superfamily. It catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Mutations in this gene are assoc...

Pfam Domains

Transglut_Naa 7–119UCSCTransglutaminase family

Transglut_coreaa 258–357UCSCTransglutaminase-like superfamily

Transglut_Caa 495–600UCSCTransglutaminase family, C-terminal ig like domain

Transglut_Caa 607–704UCSCTransglutaminase family, C-terminal ig like domain

Gene Aliases

HGNC Name

transglutaminase 6

HGNC Previous Symbol

TGM3L

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_198994.3

p.R412C

c.1234C>T

Surrounding Variants

1 paper

NM_198994.3

p.E408_S409delFs

c.1223_1227del5

1 paper

NM_198994.3

p.T417M

c.1250C>T

1 paper

NM_198994.3

p.I420_G421del2

c.1258_1262del6

1 paper

NM_198994.3

p.C423G

c.1267T>G

1 paper

NM_198994.3

p.T426N

c.1277C>A

1 paper

NM_198994.3

p.A397T

c.1189G>A

1 paper

NM_198994.3

p.A428V

c.1283C>T

1 paper

NM_198994.3

p.V429insFs

c.1286_1287insC

7 papers

NM_198994.3

p.V391M

c.1171G>A

1 paper

NM_198994.3

p.F390F

c.1170C>T

1 paper

NM_198994.3

p.V435_D436delFs

c.1303_1307del5

2 papers

NM_198994.3

p.I437V

c.1309A>G