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.S1893*

c.5678C>A

Surrounding Variants

1 paper

NM_000051.4

p.S1893*

c.5678C>G

1 paper

NM_000051.4

p.S1893L

c.5678C>T

1 paper

NM_000051.4

p.S1893_E1894delFs

c.5679_5680delAG

1 paper

NM_000051.4

p.S1893T

c.5677T>A

2 papers

NM_000051.4

p.S1893P

c.5677T>C

12 papers

NM_000051.4

p.S1893A

c.5677T>G

1 paper

NM_000051.4

p.S1893fs

c.5677_5678fs

1 paper

NM_000051.4

p.E1892D

c.5676G>C

2 papers

NM_000051.4

p.E1894insFs

c.5681dupA

1 paper

NM_000051.4

p.E1894*

c.5680G>T

1 paper

NM_000051.4

p.E1894fs

c.5680_5681fs

1 paper

NM_000051.4

p.S1893_F1897delFs

c.5679_5691del13