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

3 papers

NM_000051.4

p.G2477R

c.7429G>C

Surrounding Variants

3 papers

NM_000051.4

p.G2477R

c.7429G>A

1 paper

NM_000051.4

p.S2476R

c.7428T>A

1 paper

NM_000051.4

p.S2476R

c.7428T>G

2 papers

NM_000051.4

p.G2477_E2478del1

c.7430_7432delGAG

1 paper

NM_000051.4

p.G2477G

c.7431A>T

1 paper

NM_000051.4

p.S2476I

c.7427G>T

1 paper

NM_000051.4

p.S2476R

c.7426A>C

2 papers

NM_000051.4

p.S2476G

c.7426A>G

1 paper

NM_000051.4

p.S2476C

c.7426A>T

2 papers

NM_000051.4

p.E2478K

c.7432G>A

1 paper

NM_000051.4

p.E2478delFs

c.7433delA

1 paper

NM_000051.4

p.E2479_C2488del0

c.7435_7464del30