Varaico: Literature-Extracted Genetic Variants

ATM

7,296 papers

RefSeq Summary

The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variet...

Pfam Domains

TANaa 8–112UCSCTelomere-length maintenance and DNA damage repair

TANaa 8–165UCSCTelomere-length maintenance and DNA damage repair

FATaa 2096–2489UCSCFAT domain

PI3_PI4_kinaseaa 2713–2962UCSCPhosphatidylinositol 3- and 4-kinase

FATCaa 3025–3056UCSCFATC domain

Gene Aliases

HGNC Name

ATM serine/threonine kinase

HGNC Previous Symbols

ATA; ATDC; ATC; ATD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000051.4

p.M2239V

c.6715A>G

Surrounding Variants

2 papers

NM_000051.4

p.D2240H

c.6718G>C

1 paper

NM_000051.4

p.E2238fs

c.6712_6713fs

1 paper

NM_000051.4

p.D2240A

c.6719A>C

3 papers

NM_000051.4

p.K2237T

c.6710A>C

1 paper

NM_000051.4

p.K2237M

c.6710A>T

1 paper

NM_000051.4

p.D2240D

c.6720C>T

2 papers

NM_000051.4

p.K2237fs

c.6709_6710fs

2 papers

NM_000051.4

p.K2237delFs

c.6710_6711delAG

2 papers

NM_000051.4

p.K2237fs

c.6709_6710fs

3 papers

NM_000051.4

p.N2241T

c.6722A>C

3 papers

NM_000051.4

p.N2241S

c.6722A>G

5 papers

NM_000051.4

p.K2237_M2239delFs

c.6711_6715del5