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.R1331L

c.3992G>T

Surrounding Variants

3 papers

NM_000179.3

p.R1331Q

c.3992G>A

2 papers

NM_000179.3

p.R1331P

c.3992G>C

1 paper

NM_000179.3

p.R1331insFs

c.3992_3993insA

5 papers

NM_000179.3

p.L1332_F1333insFs

c.3996_3999dup4

1 paper

NM_000179.3

p.R1331insFs

c.3991_3992ins4

1 paper

NM_000179.3

p.R1331fs

c.3991_3992fs

41 papers

NM_000179.3

p.R1331*

c.3991C>T

1 paper

NM_000179.3

p.L1332fs

c.3994_3995fs

1 paper

NM_000179.3

p.L1332*

c.3995T>A

1 paper

NM_000179.3

p.L1332*

c.3995T>G

6 papers

NM_000179.3

p.L1332_R1334insFs

c.3996_4000dup5

1 paper

NM_000179.3

p.F1333insFs

c.3999dupT