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.E28insFs

c.83dupA

Surrounding Variants

3 papers

NM_000051.4

p.E28K

c.82G>A

2 papers

NM_000051.4

p.E28Q

c.82G>C

1 paper

NM_000051.4

p.E28*

c.82G>T

1 paper

NM_000051.4

p.E28fs

c.82_83fs

1 paper

NM_000051.4

p.E28A

c.83A>C

1 paper

NM_000051.4

p.E28G

c.83A>G

4 papers

NM_000051.4

p.E28V

c.83A>T

2 papers

NM_000051.4

p.V27V

c.81T>C

1 paper

NM_000051.4

p.V27_E28insFs

c.81_82insA

1 paper

NM_000051.4

p.E28delFs

c.82delG

2 papers

NM_000051.4

p.E28E

c.84G>A

4 papers

NM_000051.4

p.E28D

c.84G>C