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

3 papers

NM_000179.3

p.N984H

c.2950A>C

Surrounding Variants

1 paper

NM_000179.3

p.N984fs

c.2950_2951fs

1 paper

NM_000179.3

p.N984I

c.2951A>T

1 paper

NM_000179.3

p.E983_N984insFs

c.2949_2950insCT

1 paper

NM_000179.3

p.N984delFs

c.2950_2951delAA

7 papers

NM_000179.3

p.E983Q

c.2947G>C

3 papers

NM_000179.3

p.F985L

c.2953T>C

3 papers

NM_000179.3

p.F985L

c.2955C>A

3 papers

NM_000179.3

p.F985L

c.2955C>G

1 paper

NM_000179.3

p.P982L

c.2945C>T

1 paper

NM_000179.3

p.P982T

c.2944C>A

1 paper

NM_000179.3

p.P982fs

c.2944_2945fs

1 paper

NM_000179.3

p.P982A

c.2944C>G