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

2 papers

NM_000051.4

p.D2320N

c.6958G>A

Surrounding Variants

2 papers

NM_000051.4

p.D2320G

c.6959A>G

1 paper

NM_000051.4

p.L2319*

c.6956T>A

1 paper

NM_000051.4

p.L2319delFs

c.6957delG

1 paper

NM_000051.4

p.A2321T

c.6961G>A

1 paper

NM_000051.4

p.K2318N

c.6954G>C

1 paper

NM_000051.4

p.K2318N

c.6954G>T

1 paper

NM_000051.4

p.K2318M

c.6953A>T

3 papers

NM_000051.4

p.K2318fs

c.6952_6953fs

5 papers

NM_000051.4

p.K2318Q

c.6952A>C

1 paper

NM_000051.4

p.K2318E

c.6952A>G

1 paper

NM_000051.4

p.K2318*

c.6952A>T

1 paper

NM_000051.4

p.K2318fs

c.6952_6953fs