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.M1074fs

c.3220_3221fs

Surrounding Variants

1 paper

NM_000179.3

p.M1074L

c.3220A>C

1 paper

NM_000179.3

p.M1074L

c.3220A>T

2 papers

NM_000179.3

p.M1074delFs

c.3221delT

3 papers

NM_000179.3

p.M1074fs

c.3220_3221fs

1 paper

NM_000179.3

p.P1073insFs

c.3219dupT

7 papers

NM_000179.3

p.P1073R

c.3218C>G

4 papers

NM_000179.3

p.P1073_M1074delFs

c.3219_3220delTA

1 paper

NM_000179.3

p.P1073A

c.3217C>G

23 papers

NM_000179.3

p.P1073S

c.3217C>T

1 paper

NM_000179.3

p.C1075R

c.3223T>C

4 papers

NM_000179.3

p.G1072D

c.3215G>A

2 papers

NM_000179.3

p.G1072V

c.3215G>T