Varaico: Literature-Extracted Genetic Variants

MSH6

3,286 papers

RefSeq Summary

This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of a...

Pfam Domains

PWWPaa 1–85UCSCPWWP domain

MutS_Iaa 308–427UCSCMutS domain I

MutS_IIaa 438–604UCSCMutS domain II

MutS_IIIaa 639–965UCSCMutS domain III

MutS_IVaa 833–925UCSCMutS family domain IV

MutS_Vaa 1031–1225UCSCMutS domain V

Gene Aliases

HGNC Name

mutS homolog 6

HGNC Previous Symbol

GTBP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000179.3

p.T336T

c.1008T>A

Surrounding Variants

1 paper

NM_000179.3

p.L337M

c.1009T>A

1 paper

NM_000179.3

p.L337insFs

c.1010_1011dupTG

1 paper

NM_000179.3

p.T336delFs

c.1007delC

2 papers

NM_000179.3

p.T336fs

c.1006_1007fs

1 paper

NM_000179.3

p.L337S

c.1010T>C

1 paper

NM_000179.3

p.L337insFs

c.1010_1011insA

1 paper

NM_000179.3

p.N335K

c.1005T>A

1 paper

NM_000179.3

p.N335K

c.1005T>G

1 paper

NM_000179.3

p.R338fs

c.1012_1013fs

3 papers

NM_000179.3

p.N335S

c.1004A>G

1 paper

NM_000179.3

p.N335I

c.1004A>T

1 paper

NM_000179.3

p.R338*

c.1012A>T