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

2 papers

NM_000179.3

p.T1175fs

c.3523_3524fs

Surrounding Variants

1 paper

NM_000179.3

p.T1175S

c.3523A>T

3 papers

NM_000179.3

p.T1175fs

c.3523_3524fs

1 paper

NM_000179.3

p.T1175S

c.3524C>G

1 paper

NM_000179.3

p.T1175delFs

c.3525delT

1 paper

NM_000179.3

p.F1174L

c.3522T>A

1 paper

NM_000179.3

p.F1174L

c.3522T>G

2 papers

NM_000179.3

p.T1175insFs

c.3523dupA

1 paper

NM_000179.3

p.F1174C

c.3521T>G

2 papers

NM_000179.3

p.R1176fs

c.3526_3527fs

3 papers

NM_000179.3

p.R1176*

c.3526A>T

1 paper

NM_000179.3

p.R1176_G1178delFs

c.3528_3532del5

1 paper

NM_000179.3

p.F1174L

c.3520T>C