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.A749T

c.2245G>A

Surrounding Variants

1 paper

NM_000051.4

p.A749fs

c.2245_2246fs

2 papers

NM_000051.4

p.A749V

c.2246C>T

1 paper

NM_000051.4

p.K748T

c.2243A>C

1 paper

NM_000051.4

p.A749A

c.2247C>A

1 paper

NM_000051.4

p.A749A

c.2247C>G

1 paper

NM_000051.4

p.K750del1

c.2248_2249delAAG

1 paper

NM_000051.4

p.K750_S751ins1

c.2250_2251insTAG

1 paper

NM_000051.4

p.K750fs

c.2248_2249fs

2 papers

NM_000051.4

p.K748E

c.2242A>G

1 paper

NM_000051.4

p.K750E

c.2248A>G

2 papers

NM_000051.4

p.K750R

c.2249A>G

1 paper

NM_000051.4

p.Q747H

c.2241G>C